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Research ID	Study Title	Release Date	Type of Study	Platform	Participants/Materials (Ethnicity)	Data Provider	Type of Data
hum0001.v1 JGAS000002	Sequence Data of a SCA31 Patient	v1:2013/12/01	Single Patient NGS (WGS)	Illumina (HiSeq 2000)	1 Patient (Japanese)	Shinichi Morishita	Controlled-Access (Type I)
hum0004.v1 JGAS000001	Molecular Epidemiological Study of Somatic Mutation Profiles of EGFR Mutation Positive Lung Adenocarcinoma	v1:2014/07/11	NGS (Exome)	Illumina (Genome Analyzer IIx)	97 Patients (Japanese)	Koichi Goto	Controlled-Access (Type I)
hum0005.v5 DRA001273 JGAS000032 DRA003791 JGAS000093 JGAS000123 JGAS000166	Genetic Analysis of Hearing Loss and Its Clinical Application	v1:2014/01/27 v2:2017/02/24 v3:2017/06/19 v4:2018/02/13 v5:2019/04/18	NGS (Target Capture)	Life technoligies (Ion PGM/IonProton) Illumina (HiSeq 2000)	17 UsherSyndrome patients 121 Non-syndromic hearing loss patients (Japanese)	Shin-ichi Usami	Un-restricted Access Controlled-Access (Type I)
hum0006.v4 JGAS000004 JGAS000106 JGAS000146	Genomic and Genetic Analysis of Brain Tumors and Analysis of Their Clinicopathological Significance	v1:2014/01/31 v2:2017/06/05 v3:2017/09/01 v4:2019/02/13	NGS (Exome, RNA-seq) Methylation array	Illumina (HiSeq 2000, HumanMethylation450 BeadChip)	6 astrocytomas 16 oligodendrogliomas gliomas (17 cerebellar gliomas, 8 cerebral glioblastomas and 14 thalamic gliomas) 94 gliomas (Japanese)	Nobuhito Saito (P-DIRECT)	Controlled-Access (Type I)
hum0007.v1 JGAS000005	Gene Expression of Human Th17 Cells Before and After Activation	v1:2015/02/12	NGS (RNA-seq)	Applied BioSystems (AB5500 GA)	1 Participant (4 Samples) (Japanese)	Sanju Iwamoto	Controlled-Access (Type I)
hum0008.v1 JGAS000007	Research for genetic causes and mechanisms of Hirschsprung's	v1:2018/01/29	NGS (Exome)	Illumina (HiSeq 2000)	5 Patients with Hirschsprung's diseases and 6 their families (Japanese)	Hiroshi Matsufuji	Controlled-Access (Type I)
hum0009.v3 DRA003802	DNA Methylation Analysis of Early Human Embryos	v1:2014/12/24 v2:2015/01/07 v3:2015/08/03	NGS (PBAT)	Illumina (HiSeq 2000/2500)	11 Libraries (Japanese)	Takahiro Arima	Un-restricted Access
hum0010.v1 JGAS000008	Research for candidate genes of splenic epidermoid cyst.	v1:2015/06/23	NGS (Exome)	Illumina (HiSeq 2000)	8 Splenic epidermoid cysts (Japanese)	Hiroshi Matsufuji	Controlled-Access (Type I)
hum0011.v1 JGAS000015	Integrated hepatitis B virus is epigenomically regulated by the methylation status of the human genome	v1:2015/10/07	NGS (Target Capture)	Roche GS FLX Titanium	2 Cell lines 8 HB-HCC primary tissues (Japanese)	Hiroyuki Yamamoto	Controlled-Access (Type I)
hum0012.v1 JGAS000012	Nagahama Zero-ji Preventive Cohort Project	v1:2015/08/19	SNP-chip Control Set Cohort	Illumina (Human610-Quad, HumanOmni2.5-4/2.5-8/2.5S-8, HumanExome-12, HumanCoreExome-12)	3712 Participants (Japanese)	Fumihiko Matsuda	Controlled-Access (Type I)
hum0013.v1	Japan PGx Data Science Consortium Database	v1:2014/10/16	SNP-chip Control Set	Illumina (HumanOmni2.5-8)	2994 Participants (Japanese)	Koji Suematsu	Un-restricted Access
hum0014.v22 JGAS000101 JGAS000114 JGAS000140 JGAS000203 JGAS000293	Bio Bank Japan project	v1:2014/09/30 v2:2015/12/28 v3:2016/01/28 v4:2016/02/02 v5:2017/05/18 v6:2017/09/08 v7:2018/04/04 v8:2018/05/01 v9:2018/08/07 v10:2018/08/13 v11:2018/10/16 v12:2018/12/10 v13:2019/01/25 v14:2019/03/26 v15:2019/09/27 v16:2019/10/07 v17:2019/10/08 v18:2019/11/26 v19:2020/04/20 v20:2020/08/17 v21:2020/08/25 v22:2021/05/21	SNP-chip Case-Control NGS (WGS, Target Capture)	Illumina (Human610-Quad, HumanHap550v3, HumanOmniExpress-12, HumanExome, OmniExpressExome, HiSeq 2500) Perlegen Sciences (high-density oligonucleotide arrays) Hologic Japan (Invader)	v1:1666 MIs and 3198 ctrls v2:934 ctrls (JSNP) v2:35 diseases (JSNP) v2:182 esophageal cancers (JSNP) v2:92 ALSs (JSNP) v3:9817 T2DMs and 6763 ctrls v3:5646 T2DMs and 19,420 ctrls v4:1472 ADs and 7966 ctrls v5:8180 AFs and 28,612 ctrls v6:158,284 individuals for BMI study v6:182,505 individuals' genotype data v7:3980 POAGs and 18,815 ctrls v8:162,255 individuals for 58 quantitative traits study v9:67,029 females with information on age at menarche v9:43,861 females with information on age at menopause v10:1,026 individuals for WGS v11:7,104 breast cancer patients and 23,731 controls v12:2,809 T2DM with diabetic nephropathy patients and 5,592 T2DM ctrls v13:36,614 T2DMs and 155,150 ctrls v14:165,436 individuals with information on smoking behaviour v15:1,026 individuals from biobank Japan and 2,504 individuals from 1KGP p3v5 ALL v15:159,095 individuals for height study v16:7,636 prostate cancer patients and 12,366 ctrls v17,18,21:212,453 individuals for 42 diseases v19:165,084 individuals with information on dietary habits v2025,892 CADs and 142,336 ctrls v22:11,234 individuals from biobank Japan (Japanese)	Michiaki Kubo	Un-restricted Access Controlled-Access (Type I)
hum0015.v3 JGAS000159	Construction of the Whole-genome Reference Panel of 3552 Japanese Individuals	v1:2014/10/14 v2:2018/12/27 v3:2019/01/11	NGS (WGS)	Illumina (HiSeq 2500)	3552 Participants (Japanese)	Masayuki Yamamoto (ToMMo)	Un-restricted Access
hum0016.v1 DRA002604	Epigenome analysis of proteins expressed in human testis	v1:2016/09/30	NGS (ChIP-seq, RNA-seq)	Illumina (HiSeq 1500)	1 Participant (4 Samples) (Japanese)	Yasuyuki Ohkawa	Un-restricted Access
hum0017.v1 JGAS000021	Exome sequencing of primary central nervous system lymphoma	v1:2016/02/22	NGS (Exome, RNA-seq)	Illumina (HiSeq 2000)	41 PCNSLs (Japanese)	Hiroyuki Mano	Controlled-Access (Type I)
hum0018.v1 JGAS000009	Genetic analysis in neurodegenerative disorders	v1:2015/02/03	NGS (Exome)	Illumina (HiSeq 2000)	14 MSAs and 7 Controls (Japanese)	Shoji Tsuji	Controlled-Access (Type I)
hum0019.v1 JGAS000011	Systematic identification of long non-coding RNAs potentially involved in gastrointestinal cancer	v1:2015/04/01	NGS (RNA-seq) Tumor vs. Matched-Normal	Illumina (HiSeq 2500)	17 GICs (32 Samples) (Japanese)	Yasuhisa Shinomura (Genome Science)	Controlled-Access (Type I)
hum0020.v1 JGAS000013	Genetic Analysis in Amyotrophic Lateral Sclerosis	v1:2015/01/08	NGS (Exome)	Illumina (HiSeq 2000)	11 ALSs (Japanese)	Fumiaki Tanaka (Genome Science)	Controlled-Access (Type I)
hum0021.v3 JGAS000014 JGAS000273	Genetic Analysis in Psychiatric Disorders	v1:2015/01/08 v2:2021/03/05 v3:2021/04/20	NGS (Exome)	Illumina (HiSeq 2000/2500)	Healthy Monozygotic Twins: 3 Pairs (6 Participants) 66 + 78 trios with bipolar disorder proband and unaffected parents (Japanese)	Tadafumi Kato (Genome Science)	Controlled-Access (Type I)
hum0022.v1 JGAS000017	Analysis of the Molecular Mechanism for Developing Donor-Origin Leukemia after Allogeneic Stem Cell Transplantation.	v1:2015/02/02	NGS (Exome)	Illumina (HiSeq 2000)	1 DCL (5 Samples from Each Stage) 1 Donor (Japanese)	Hitoshi Kiyoi (P-DIRECT)	Controlled-Access (Type I)
hum0023.v1 JGAS000016	Genetic Analysis in Lifestyle-Related Disease, Arteriosclerotic Disease, and Aging-Related Diseases	v1:2015/01/28	NGS (Exome)	Illumina (HiSeq 2000)	30 Hypertensions (Japanese)	Tetsurou Miki (Genome Science)	Controlled-Access (Type I)
hum0024.v1 JGAS000023	Comprehensive Analysis of Genetic Alterations in Hematological Malignancies	v1:2015/04/16	NGS (Exome)	Illumina (Genome Analyzer IIx, HiSeq 2000/2500)	13 MDSs and 1 CMML (Japanese)	Seishi Ogawa (P-DIRECT)	Controlled-Access (Type I)
hum0027.v1 JGAS000024 JGAS000040	Identification of genetic polymorphism on aggressive periodontitis	v1:2016/07/28	NGS (Exome)	Illumina (HiSeq 2000)	Periodontitis patients (Japanese)	Shinya Murakami	Controlled-Access (Type I)
hum0028.v2 JGAS000018	Biobank Japan Project	v1:2015/06/02 v2:2018/06/05	SNP-chip	Illumina (HumanOmniExpress BeadChip, HumanExome BeadChip, ImmunoChip, HumanHap550v3 Genotyping BeadChip)	908 Participants (Japanese)	Michiaki Kubo (BBJ)	Controlled-Access (Type I)
hum0029.v2	Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome	v1:2016/03/09 v1:2020/12/21	SNP-chip Case-Control	Affymetrix (Axiom ASI) Illumina (HiSeq X Ten)	117 SJSs and 691 controls 133 SJS/TENs and 418 controls (Japanese)	Mayumi Ueta (Genome Science)	Un-restricted Access
hum0030.v1 JGAS000022	The Molecular Biological Analysis about Occurrence and Malignant Transformation in gynecological carcinogenesis	v1:2015/04/21	SNP-chip CNV Analysis	Affymetrix (Human Mapping 250K Nsp Array)	57 OvarianCarcinomas (Japanese)	Katsutoshi Oda (P-DIRECT)	Controlled-Access (Type I)
hum0031.v1 JGAS000042 JGAS000043 JGAS000044 JGAS000045	Constructing database of magnetic resonance imaging of the brain and the ancillary clinical information for multisite collaboration studies	v1:2015/11/20	Neuroimage Clinical Info	Philips (Achieva)	129 normal controls, 37 schizophrenia, 8 unipolar and 2 bipolar disorders (Japanese)	Kiyoto Kasai	Controlled-Access (Type I) Un-restricted Access
hum0032.v1 JGAS000026 JGAS000027 JGAS000028	Standard epigenome mapping in human epithelial cells of the digestive and urogenital organs (HPC series)	v1:2016/07/22	NGS (WGBS ChIP-seq RNA-seq)	Illumina (HiSeq 2000/2500)	8 partial hepatectomy specimens (Japanese)	Yae Kanai (IHEC)	Controlled-Access (Type I)
hum0033.v1 DRA003516	Functional analysis of two types of exosome in human whole saliva	v1:2015/05/01	NGS (RNA-seq)	Illumina (Genome Analyzer IIx)	1 Participant (3 Samples) (Japanese)	Ryohei Yanoshita	Un-restricted Access
hum0034.v1 JGAS000037	Identification of novel therapeutic targets of small cell lung cancer by comprehensive genomic analyses	v1:2015/10/01	NGS (Exome)	Illumina (HiSeq 2000)	51 SCLCs (Japanese)	Koichi Goto (P-DIRECT)	Controlled-Access (Type I)
hum0035.v5 JGAS000036 JGAS000046 JGAS000088 JGAS000188 JGAS000204 JGAS000246	Genome wide analysis of gene mutations in solid tumors	v1:2015/09/16 v2:2017/12/26 v3:2020/05/29 v4:2020/12/14 v5:2020/12/18	NGS (Exome, Target Capture, RNA-seq) SNP-chip Methylation array	Illumina (HiSeq 2000/2500, MiSeq, Infinium MethylationEPIC) Affymetrix (GeneChip Human Mapping 250k Nspl, CytoScan HD arrays)	16 RMSs 7 PPBs 522 NBs 39 neuroblastoma cell lines 10 PBLs 59 HBLs 2 HBL cell lines 51 patients with pediatric germ cell tumors 30 patients with high-risk neuroblastoma (Japanese)	Junko Takita (P-DIRECT)	Controlled-Access (Type I)
hum0036.v1 DRA003736	Performance Comparison of Four Commercial Human Whole-Exome Capture Platforms	v1:2015/08/01	NGS (Exome) Platform comparison	Illumina (HiSeq 2500)	2 HapMap-JPT samples (Japanese)	Michiaki Kubo	Un-restricted Access
hum0037.v1 JGAS000035	Diagnostic feasibility study for pathological prediction with rheumatoid arthritis-susceptible genes and genomic regions identified by the association analysis using microsatelite markers	v1:2015/09/24	NGS (Exome)	Illumina (HiSeq 2000)	39 RAs 10 Controls (pooled) (Japanese)	Shigeki Mitsunagai (Genome Science)	Controlled-Access (Type I)
hum0038.v1 JGAS000041	Genetic analysis in an inherited cardiac arrhythmia	v1:2015/11/18	NGS (Exome)	Illumina (HiSeq 2000)	11 Patients with an inherited cardiac arrhythmia (Japanese)	Naomasa Makita (Genome Science)	Controlled-Access (Type I)
hum0039.v1 JGAS000039	Analysis of TKI resistant mechanism for gastrointstinal stromal tumor (GIST)	v1:2016/12/27	NGS (Exome)	Illumina (HiSeq 1500)	4 Imatinib resistant GIST (Japanese)	Tsuyoshi Takahashi	Controlled-Access (Type I)
hum0040.v1 JGAS000038	Epigenomic analysis of the human placenta	v1:2016/09/16	NGS (WGS, Exome, RNA-seq, BS-seq)	Illumina (HiSeq 2500)	28 human placenta 26 maternal blood samples (Japanese)	Takahiro Arima (IHEC)	Controlled-Access (Type I)
hum0041.v1 JGAS000052	Research of factors related to diagnosis, progression, prognosis and treatment of hepato-biliary-pancreatic malignancies	v1:2017/01/12	NGS (Exome, Target Capture)	Illumina (HiSeq 2000)	33 primary HCC (Japanese)	Shinji Tanaka (P-DIRECT)	Controlled-Access (Type I)
hum0042.v1	Genome analysis for elucidation of genetic factors in orofacial traits and diseases	v1:2016/03/02	NGS (WGS)	Illumina (HumanOmniExpress BeadChip)	146 TMJ and 374 controls 149 third molar agenesis and 338 controls (Japanese, Korean)	Tetsutarou Yamaguchi (Genome Science)	Controlled-Access (Type I)
hum0043.v1 JGAS000051	Japanese Alzheimer's disease neuroimaging initiative (J-ADNI)	v1:2016/01/29	Neuroimage Clinical Info	MRI Scanners (15 Models) PET Scanners (16 Models)	234 MCI 154 AD 149 healthly controls (Japanese)	Takeshi Iwatsubo	Controlled-Access (Type I) Un-restricted Access
hum0044.v1 DRA004162	Research about retrovirus infection	v1:2016/10/31	NGS (ChIP-seq)	Illumina (NextSeq 500)	1 ED (ATL cell line) (Cell-line)	Yorifumi Satou	Un-restricted Access
hum0045.v1 JGAS000047	Transcriptome analysis of acute lymphoblastic leukemia in adolescents and young adults	v1:2016/03/29	NGS (RNA-seq)	Illumina (HiSeq 2000/2500)	99 Ph(-) ALL 3 Ph(+) ALL 5 cell lines 8 normal hematopoietic cells (Japanese)	Hiroyuki Mano (P-DIRECT)	Controlled-Access (Type I)
hum0048.v1 DRA004251	Whole exome sequencing on ampullary carcinomas	v1:2016/02/05	NGS (Exome)	Illumina (HiSeq 2000/2500)	60 Patients with ampullary cancer (28 Japanese patients and 32 American patients)	Shinich Yachida	Un-restricted Access
hum0050.v1 JGAS000053	Transcriptome analysis of Hepatitis B for drug discovery and clinical applications	v1:2016/09/30	NGS (CAGE-seq)	Illumina (HiSeq 2000)	8 HBV (Genotype C) positive patients (Japanese)	Tomokazu Matsuura	Controlled-Access (Type I)
hum0053.v2 JGAS000062 JGAS000176	Identification of new molecular targets with profiling of malignant mesothelioma	v1:2016/07/20 v2:2020/04/14	NGS (Exome, WGS)	Illumina (HiSeq 2000/2500) 10x Genomics (Chromium Controller)	38 Malignant pleural mesothelioma (Japanese)	Takashi Nakano (P-DIRECT)	Controlled-Access (Type I)
hum0055.v1 JGAS000059	Genetic and epigentic analysis of non-alcoholic fatty liver disease	v1:2017/02/20	NGS (RNA-seq) Methylation array	Illumina (HiSeq 2500, Human Methylation 450K BeadChip)	64 NAFLD patients (Japanese)	Kikuko Hotta (Genome Science)	Controlled-Access (Type I)
hum0056.v1	Genome and Multi-layer omics reference panels using blood samples from a population-based cohort study	v1:2018/03/30	NGS (WGS, WGBS, RNA-seq)	Illumina (HiSeq 2500/X)	197 participants (Japanese)	Atsushi Shimizu	Un-restricted Access
hum0058.v1 JGAS000091	Identification of genetic mutations characteristic for recurrence and metastasis of colorectal cancer.	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	89 colorectal cancers (Japanese)	Toshiharu Yamaguchi (P-DIRECT)	Controlled-Access (Type I)
hum0059.v1 JGAS000104	Identification of genetic mutations characteristic for recurrence of serous ovarian cancer	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	65 ovarian cancer (Japanese)	Kazuyoshi Kato (P-DIRECT)	Controlled-Access (Type I)
hum0060.v1 JGAS000075	Identification of genetic mutations characteristic for recurrence and metastasis of breast cancer	v1:2018/04/03	NGS (Exome)	Illumina (HiSeq 2000)	65 recurrent / metastatic breast cancer patients (Japanese)	Yoshio Miki (P-DIRECT)	Controlled-Access (Type I)
hum0061.v1 JGAS000057	Searching causative genes of familial tumors using whole genome / exome sequencing	v1:2017/02/20	NGS (Exome)	Illumina (HiSeq 2000)	Siblings developed multiple primary lung cancers (Japanese)	Kikuya Kato	Controlled-Access (Type I)
hum0064.v1 JGAS000061	Construction of Geriatric Oncology Database for establishment of the Treatment Algorithm: Clinical Data and Questionnaire Survey Results in JapaneseElderly Cancer Patients Retrospective study	v1:2016/08/26	Direct sequencing TaqMan qRT-PCR COBRA cDNA microarray Clinical data Treatment data	GA 3130 LightCycler 480II Whole Human Genome Microarray 4x44K	[GENOME] 106 colorectal cancer 62 gastric cancer 173 lung cancer [Retrospective] 313 colorectal cancer 166 gastric cancer 344 lung cancer 300 diabetes and nephropathy 357 cardiovascular disorder 49 respiratory dysfunction (Japanese)	Masahiko Nishiyama	Controlled-Access (Type I)
hum0065.v1 JGAS000089	Shuttle system between petient-derived xenograft and ex vivo culture for innovative platform of evaluating drug sensitivity	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	8 colorectal cancer 2 lung cancer 2 small cell carcinoma of uterine cervix (Japanese)	Masahiro Inoue (P-DIRECT)	Controlled-Access (Type I)
hum0066.v1 JGAS000060	Investigating the mechanisms of tumor recurrence and metastasis by non-coding RNA	v1:2016/08/01	NGS (Exome)	Illumina (HiSeq 2000)	9 colorectal carcinomas (Japanese)	Koshi Mimori	Controlled-Access (Type I)
hum0067.v1 JGAS000076	Project for Development of Innovative Research on Cancer Therapeutics; identifiying the predictive factors for response to chemoherapy in ovarian cancer	v1:2017/05/18	NGS (Exome)	Illumina (HiSeq 2000)	55 ovarian clear cell carcinoma patients (Japanese)	Toru Sugiyama (P-DIRECT)	Controlled-Access (Type I)
hum0068.v2 JGAS000065	Cancer genomics for elucidation of molecular mechanisms of carcinogenecis and progression in lung cancer	v1:2017/07/10 v2:2020/10/19	NGS (PCR amplicon Seq, WGS)	Nanopore (MinION, PromethION) Illumina (NovaSeq 6000)	8 + 21 lung adenocarcinoma patients (Japanese)	Takashi Kono	Controlled-Access (Type I)
hum0069.v1 JGAS000064	RNA expression profiling of neuromuscular diseases and viral diseases	v1:2016/12/09	NGS (small RNA-seq)	Illumina (HiSeq 2500)	3 Neuromuscular disease (control group) (Japanese)	Takanori Yokota	Controlled-Access (Type I)
hum0070.v1 JGAS000115	Molecular analysis of Birt-Hogg-Dube syndrome: Identification of new diagnostic marker and therapeutic target	v1:2018/05/11	NGS (Exome)	Illumina (HiSeq 2000)	15 Birt-Hogg-Dube associated kidney cancer (Japanese)	Masahiro Yao (P-DIRECT)	Controlled-Access (Type I)
hum0072.v1	Identification and functional analyses of susceptibility genes to narcolepsy and other sleep disorders	v1:2017/12/26	SNP-chip	Affymetrix (SNP Array 6.0)	409 narcolepsy patients 1562 controls (Japanese) 125 essential hypersomnia patients 562 controls (Japanese)	Katsushi Tokunaga	Unrestricted-access
hum0074.v2	Genome-wide association studies on Hepatitis C virus-related diseases and construction of genome database	v1:2018/02/27 v2:2018/09/25	SNP-chip	Affymetrix (SNP Array 6.0, Axiom ASI)	78 NVR, 64 VR, 51 SVR 107 patients with the decrease of PLT 196 patients without the decrease of PLT 94 HCV patients with an Hb reduction 209 HCV patients without Hb reduction 123 patients who developed HCC after eradication of HCV 333 patients who did not develop HCC after eradication of HCV (Japanese)	Yasuhito Tanaka	Unrestricted-access
hum0075.v2	Search for susceptibility genes to hepatitis virus B-related diseases	v1:2017/09/25 v2:2019/02/19	SNP-chip	Affymetrix (SNP Array 6.0, Axiom ASI)	181 HBV carriers 185 spontaneously HBV-resolved individuals 184 controls 473 HBV-positive HCC patients 516 HBV carriers (chronic hepatitis and asymptomatic carriers) (Japanese)	Masashi Mizokami	Unrestricted-access
hum0076.v1	Genome-wide search for susceptibility genes to primary biliary chirrosis	v1:2016/10/05	SNP-chip	Affymetrix (Axiom ASI)	487 PBCs 476 controls (Japanese)	Minoru Nakamura	Unrestricted-access
hum0082.v2 JGAS000120	Genome-wide analysis of SNPs in Healthy Japanese	v1:2017/09/26 v1:2017/10/03	SNP-chip Control Set	Affymetrix (SNP Array 6.0, Axiom ASI)	419 Participants (Japanese)	Katsushi Tokunaga	Unrestricted-access Controlled-Access (Type I)
hum0083.v1 JGAS000070	Genome-wide analysis for biomarker exploration (lung cancer)	v1:2016/10/28	NGS (CAGE-seq)	Illumina (HiSeq 2500)	97 lung cancer tissues (Japanese)	Yoshihide Hayashizaki	Controlled-Access (Type I)
hum0085.v2 JGAS000108	Molecular biological research affecting on long-term treatment to malignant tumors derived from the chest or abdomen Genomic analysis of environment-associated tumors	v1:2017/10/16 v1:2018/09/25	Array CGH, NGS (WGS, Target Capture, Exome)	Illumina (MiSeq, HiSeq 4000/X Ten)	72 malignant mesotheliomas (Japanese, Americans)	Masaki Ohmuraya	Controlled-Access (Type I)
hum0086.v3 JGAS000073 (JGA000074) JGAS000107 (JGA000117)	Epigenomic analysis of the human placenta and endometrium constituting the fetal-maternal interface	v1:2017/09/25 v2:2017/12/26 v3:2018/06/26	NGS (WGBS ChIP-seq RNA-seq small RNA-seq)	Illumina (HiSeq 1500/2500)	placenta and uterus cells, trophoblast stem cells: total 39 samples (Japanese)	Hiroyuki Sasaki (IHEC)	Controlled-Access (Type I)
hum0088.v2 JGAS000077 JGAS000096	Global analysis of TGF-beta family signaling in cancer cells	v1:2019/02/08 v2:2019/09/10	NGS (RNA-seq, WGS)	Illumina (Genome Analyzer IIx) Thermo Fisher Scientific (Ion Proton)	2 glioblastomas (Japanese)	Kohei Miyazono	Controlled-Access (Type I)
hum0090.v1 JGAS000078 JGAS000079 JGAS000080	Study of molecular-genetics, and molecular epidemiology for developing treatment of esophageal cancer (COC series)	v1:2016/11/18	NGS (WGBS ChIP-seq RNA-seq)	Illumina (HiSeq 2000/2500)	12 normal human absorptive epithelial cells (Japanese)	Yae Kanai (IHEC)	Controlled-Access (Type I)
hum0091.v1 JGAS000082 JGAS000165 JGAS000081	Study of molecular-genetics, and molecular epidemiology for developing treatment of esophageal cancer (GAC series)	v1:2021/03/12	NGS (WGBS ChIP-seq RNA-seq)	Illumina (HiSeq 2000/2500)	14 Normal human foveolar epithelial cells of the stomach (Japanese)	Yae Kanai (IHEC)	Controlled-Access (Type I)
hum0094.v6 JGAS000095 JGAS000105 JGAS000113 JGAS000128 JGAS000215 JGAS000270	Genomic and epigenomic analysis of different types of cancer	v1:2017/09/04 v2:2018/01/22 v3:2019/02/12 v4:2020/08/14 v5:2020/10/26 v6:2021/01/29	NGS (WGS, Exome, RNA-seq), Methylation array, SNP-chip	Illumina (HiSeq 2000/2500, Infinium Human MethylationEPIC BeadChip, HumanOmni2.5-8 BeadChip)	68 breast cancer patients 43 + 126 lung adenocarcinoma patients 150 colorectal cancers 12 colorectal cancers with liver metastasis, 16 colorectal cancers without liver metastasis 64 desmoid tumor patients (Japanese)	Hiroyuki Mano	Controlled-Access (Type I)
hum0095.v1 JGAS000092	Genetic analysis of colorectal precancerous lesion and early colorectal cancer to investigate mechanism of carcinogenesis of colorectal cancer	v1:2018/07/30	NGS (Exome)	Illumina (HiSeq 2500)	10 cases of colorectal adenomas or PCRCs (Japanese)	Koshi Mimori	Controlled-Access (Type I)
hum0096.v2 JGAS000090 JGAS000138	Comprehensive analysis of genetic alterations in hematological malignancies	v1:2017/05/25 v2:2019/11/18	NGS (RNA-seq) Methylation array	Illumina (HiSeq 2500, Infinium MethylationEPIC)	123 pediatric T-ALL patients (Japanese)	Junko Takita	Controlled-Access (Type I)
hum0097.v1 JGAS000094	Cytogenetic analysis of hematopoietic cells in bone marrow failure syndrome	v1:2018/05/25	NGS (Exome)	Illumina (HiSeq 2500)	5 patients with aplastic anemia with uniparental disomy in 6p (Japanese)	Shinji Nakao (Genome Science)	Controlled-Access (Type I)
hum0099.v1 JGAS000085	Expression quantitative trait loci analysis using human immune cells	v1:2017/04/24	NGS (RNA-seq) SNP-chip	Illumina (HiSeq 2500, Infinium OmniExpressExome BeadChips)	105 healthy volunteers (Japanese)	Kazuhiko Yamamoto	Unrestricted-access Controlled-Access (Type I)
hum0101.v1 JGAS000098	Identification of gene mutations in primary immunodeficiency characterized by EBV-associated B-cell lymphoma	v1:2018/05/11	NGS (Target Capture)	Illumina (MiSeq)	2 patients with primary immunodeficiency (Japanese)	Yasumasa Iwatani	Controlled-Access (Type I)
hum0103.v2 JGAS000109	Genome sequencing analysis for biliary tract cancer	v1:2018/02/27 v2:2019/06/21	NGS (WGS, Exome)	Illumina (HiSeq 2000/2500, NovaSeq 6000)	98 biliary tract cancers (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0107.v2 JGAS000099 JGAS000218	Establish induced pluripotent stem (iPS) cells from patients with Gorlin syndrome and elucidate the pathology	v1:2017/10/02 v2:2020/06/01	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500/4000)	4 patients with Gorlin syndrome (Japanese)	Toshifumi Azuma	Controlled-Access (Type I)
hum0108.v1 JGAS000111	Search for new susceptibility genetic factors associated with psychiatric disorders	v1:2017/06/26	Methylation array	Illumina (Infinium HumanMethylation450)	48 panic disorder patients 48 healthy controls (Japanese)	Katsushi Tokunaga	Controlled-Access (Type I)
hum0111.v3 JGAS000103 JGAS000141 JGAS000242	Analysis of gastric cancer genome and its clinicopathological significance	v1:2017/07/31 v2:2019/05/31 v3:2021/02/19	NGS (RNA-seq, Amplicon-seq)	Illumina (HiSeq 2000, MiSeq)	30 diffuse-type gastric carcinomas 60 + 15 gastric carcinomas (Japanese)	Shumpei Ishikawa	Controlled-Access (Type I)
hum0112.v1 JGAS000112 (JGA000122)	Basic research for the establishment and characterization of human trophoblast stem cells	v1:2017/12/14	NGS (WGBS ChIP-seq RNA-seq miRNA-seq)	Illumina (HiSeq 1500/2500)	2 trophoblast stem cells (Japanese)	Takahiro Arima	Controlled-Access (Type I)
hum0113.v1 JGAS000119	Development of metabolite biomarkers of Parkinson’s disease and identification of drug seeds from chemical screening based on the biomarkers	v1:2020/04/24	NGS (CAGE-seq)	Illumina (HiSeq 2500)	39 PD patients, 20 non-PD (healthy) contorols (Japanese)	Piero Carninci	Controlled-Access (Type I)
hum0114.v2 DRA007411	Research on statistical genetics using B cell lines of Japanese ancestry	v1:2017/12/18 v2:2019/04/12	SNP-chip NGS (Target Capture)	Illumina (HumanCoreExome BeadChip, MiSeq)	282 psoriasis patients 426 controls 560 samples (Japanese)	Yukinori Okada	Unrestricted-access
hum0115.v1 JGAS000121 DRA006296	Controlling cell differentiation with precision through understanding the structure and dynamics of gene regulatory networks	v1:2020/05/15	NGS (RNA-seq) Microarray	Illumina (HiSeq 2000/2500) Agilent Technologies (SurePrint G3 Human GE v2 8x60K Microarray, SureScan G4900DA)	TF-hESCs derived from SEES3 (Cell-line)	Minoru S.H. Ko	Controlled-Access (Type I) Unrestricted-access
hum0116.v1 JGAS000122	Development of hunanized mice for human immunity research	v1:2020/11/20	NGS (Target Capture)	Illumina (HiSeq 1500/2500)	118 AMLs (Japanese)	Fumihiko Ishikawa	Controlled-Access (Type I)
hum0117.v1 JGAS000125	Epigenetics analysis of neurodegenerative diseases	v1:2017/12/11	Methylation array	Illumina (Human Methylation 450K BeadChip)	30 Alzheimer's disease patients 30 healty controls (Japanese)	Atsushi Iwata	Controlled-Access (Type I)
hum0118.v1 JGAS000124	Genome-wide analysis for biomarker exploration (endometrial cancer)	v1:2017/12/11	NGS (CAGE-seq) Sanger-seq	Illumina (HiSeq 2500) Thermo Fisher Scientific (ABI) 3500 Genetic Analyzer	17 endometrial cancer patients (Japanese)	Yoshihide Hayashizaki	Controlled-Access (Type I)
hum0119.v1 JGAS000126	Analysis for mechanism of onset and progress for NASH	v1:2019/01/31	SNP-chip	Illumina (Human610-Quad BeadChip, HumanCoreExome BeadChip, HumanOmni2.5-Quad BeadChip)	902 NAFLDs 7672 healty controls (Japanese)	Fumihiko Matsuda	Controlled-Access (Type I)
hum0120.v2 JGAS000221 DRA011183 DRA011184 DRA011185	The genetic analysis of circulating tumor DNA in blood of the digestive cancer patients to investigate the prognostic factors of metastasis and reccurence.	v1:2020/04/03 v2:2020/10/30	NGS (Exome, RNA-seq, Target Capture)	Illumina (HiSeq 2500)	10 colorectal cancers (Japanese)	Koshi Mimori	Controlled-Access (Type I) Unrestricted-access
hum0122.v1 DRA006622 DRA007336 DRA008459 E-GEAD-311	Mutation analysis of iPS cells derived from commercially-avaialble human primary cells	v1:2020/01/14	NGS (WGS) SNP-chip	Illumina (HiSeq X Ten, Infinium Omni2.5-8 v1.4 BeadChip)	human iPS cells and their parental cells: total 27 samples (Cell-line)	Ryoko Araki	Unrestricted-access
hum0124.v1 JGAS000129	Study for exome sequencing in familial epidermal growth factor receptor-mutant lung cancer	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	3 EGFR-mutant lung cancers (Japanese)	Toshiaki Kikuchi (P-DIRECT)	Controlled-Access (Type I)
hum0125.v1 JGAS000127	Immune regulation by cotrolling regulatory T cell-specific epigenome	v1:2018/11/05	NGS (RNA-seq)	Thermo Fisher Scientific (Ion S5)	3 Crohn's diseases 4 Colorectal cancers (normal cells) (Japanese)	Shimon Sakaguchi	Controlled-Access (Type I)
hum0126.v2	Identification of the disease and drug susceptibility genes for the Childhood Idiopathic Nephrotic Syndrome	v1:2018/04/27 v2:2020/09/01	SNP-chip	Affymetrix (Japonica Array v1/v2)	224 + 3,206 Childhood Idiopathic Nephrotic Syndrome patients 419 + 987 healthy controls (Japanese)	Kazumoto Iijima	Unrestricted-access
hum0127.v2 JGAS000130 JGAS000274	Implementation of individualized medicine for cancer patients by multiomics-based analyses—the Project HOPE (High-tech Omics-based Patients Evaluation) for Cancer Therapy—	v1:2020/04/14 v2:2021/03/08	NGS (Exome, DNA Amplicon-seq, RNA Amplicon-seq) Microarray	Thermo Fisher Scientific (Ion Proton) Agilent Technologies (SurePrint G3 Human Gene Expression 8 × 60 K v2 Microarray, DNA Microarray Scanner)	91 cancer patients with hypermutator tumors harborig POLE mutations 5143 cancer patients (5433 samples) (Japanese)	Ken Yamaguchi	Controlled-Access (Type I)
hum0128.v1 JGAS000153	A study on comprehensive genome and proteome analyses of the chronic eosinophillic inflammatory diseases.	v1:2018/10/29	NGS (RNA-seq)	Illumina (HiSeq 2000)	6 chronic rhinosinusitis with nasal polyps (Japanese)	Shigeharu Fujieda	Controlled-Access (Type I)
hum0129.v1 JGAS000131	Research for analyzing mechanistic insight into disease progression of neural disease based on iPS cell technology	v1:2018/04/06	NGS (ChIP-seq)	Illumina (HiSeq 2500)	2 CHARGE syndrome patients (Japanese)	Hideyuki Okano	Controlled-Access (Type I)
hum0130.v1 JGAS000150	Comprehensive genetic analyses of bone marrow cells in POEMS syndrome Analyses of molecular mechanisms of hematological malignancies and bone marrow niche	v1:2019/01/18	NGS (Exome, Target Capture, RNA-seq)	Illumina (HiSeq 1500/2500, MiSeq)	20 POEMS syndromes 4 MMs 5 MGUSs (Japanese)	Emiko Sakaida	Controlled-Access (Type I)
hum0131.v1 JGAS000132	The epigenetics of neurodevelopmental disorders	v1:2018/11/20	NGS (RNA-seq)	Thermo Fisher Scientific (Ion Proton)	6 Williams syndromes 8 healthy contorols (Japanese)	Ryo Kimura	Controlled-Access (Type I)
hum0132.v1 JGAS000137	Identification of genetic alterations in Vietnamese individuals with elevated blood dioxin level	v1:2018/09/07	NGS (WGS)	Illumina (HiSeq 2500)	9 trios of the father exposed to dioxin and his wife and child with mental retardation (total 27 individuals) (Vietnamese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0133.v1 JGAS000086	Identification of genetic mutations characteristic for recurrence and metastasis of gastric cancer.	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	75 gastric cancers (Japanese)	Toshiharu Yamaguchi (P-DIRECT)	Controlled-Access (Type I)
hum0134.v1 JGAS000087	Identification of genetic mutations characteristic for recurrence and metastasis of B cell lymphoma.	v1:2018/04/06	NGS (Exome)	Illumina (HiSeq 2000)	60 B cell lymphomas (Japanese)	Toshiharu Yamaguchi (P-DIRECT)	Controlled-Access (Type I)
hum0136.v2	Construction of integrated clinical genome database regarding hepatitis B related diseases	v1:2018/05/22 v2:2021/03/05	SNP-chip	Affymetrix (Axiom ASI)	1,193 individuals vaccinated with a HB vaccine (Bimmugen) 555 individuals vaccinated with a HB vaccine (Heptavax) (Japanese)	Masashi Mizokami	Unrestricted-access
hum0137.v1 JGAS000144	a multicenter study of susceptibility genes to type 1 diabetes	v1:2018/12/21	NGS (Target Capture)	Thermo Fisher Scientific (Ion Proton)	32 type 1 diabetes patients (Japanese)	Hiroshi Ikegami	Controlled-Access (Type I)
hum0138.v2 JGAS000134	Clonal structure and oncogenic potential of liver cirrhosis tissues	v1:2020/07/31 v2:2021/03/26	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500/4000)	Liver cirrhosis: 10 cases Hepatocellular carcinoma: 4 cases 7 healthy donors (Japanese)	Atsushi Takai	Controlled-Access (Type I)
hum0139.v1 JGAS000136	Research for drug discovery and elucidation of pathophysiology using disease-specific iPS cells	v1:2018/07/10	NGS (Exome)	Illumina (HiSeq 1500)	1 RALD patient (Japanese)	Makoto Otsu	Controlled-Access (Type I)
hum0140.v1 JGAS000158	Prediction of response to preoperative chemoradiotherapy in rectal cancer based on whole-exome sequencing and transcriptomic analysis	v1:2019/11/19	NGS (Exome)	Illumina (HiSeq 2000)	74 rectal cancer treated with preoperative chemoraidotherapy (Japanese)	Takashi Akiyoshi	Controlled-Access (Type I)
hum0141.v1 JGAS000135	Immune regulation by cotrolling regulatory T cell-specific epigenome	v1:2019/05/09	NGS (RNA-seq)	Thermo Fisher Scientific (Ion S5)	Head and neck cancer: 4 cases (Japanese)	Shimon Sakaguchi	Controlled-Access (Type I)
hum0144.v1 JGAS000147	Comprehensive analysis of genetic alterations in hematological malignancies (pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome)	v1:2020/01/10	NGS (RNA-seq), Methylation array, SNP array	Illumina (HiSeq 2000/2500, Infinium MethylationEPIC BeadChip, Infinium HumanMethylation450 BeadChip) Affymetrix (GeneChip Human Mapping 250K Nsp, CytoScan HD)	pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome: 43 cases (Japanese)	Junko Takita	Controlled-Access (Type I)
hum0145.v1 JGAS000222	The genetic analysis of circulating tumor DNA in blood of the digestive cancer patients to investigate the prognostic factors of metastasis and reccurence.	v1:2020/04/03	NGS (Target Capture)	Illumina (HiSeq 2500)	10 colorectal cancers (Japanese)	Koshi Mimori	Controlled-Access (Type I)
hum0146.v1 DRA007187	Diagnosis of imprinting disorders and safety evaluation of assisted reproduction technologies (ART)	v1:2019/02/19	NGS (RRBS)	Illumina (HiSeq 2500)	5 SRS patients born after ART 5 spontaneously conceived SRS patients 10 spontaneously conceived children (Japanese)	Takahiro Arima	Un-restricted Access
hum0147.v1 JGAS000145	Immune regulation by cotrolling regulatory T cell-specific epigenome	v1:2020/05/25	NGS (RNA-seq, ChIP-seq, PBAT-seq, ATAC-seq)	Thermo Fisher Scientific (Ion S5) Illumina (HiSeq 2500, NovaSeq 6000)	4 healty donors (Japanese)	Shimon Sakaguchi	Controlled-Access (Type I)
hum0148.v1 JGAS000149	Analysis of abnomal character and expression of genes in tissues of urologic carcinomas.	v1:2019/06/20	NGS (RNA-seq)	Illumina (Genome Analyzer IIx)	67 renal cell carcinomas (Japanese)	Takeshi Yuasa	Controlled-Access (Type I)
hum0152.v1 JGAS000182	Multi‐institutional study on molcular pathogenesis of bone and soft tissue tumors by genome and proteome analyses and its clinical application	v1:2019/09/20	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500)	Dedifferentiated liposarcoma: 37 cases (Japanese)	Hitoshi Ichikawa	Controlled-Access (Type I)
hum0153.v1 JGAS000177	Multiomics analysis of rare cancers to identify genetic alterations related with pathogenesis and prognosis	v1:2019/09/20	NGS (Exome, RNA-seq, Target Capture)	Illumina (HiSeq 2500, MiSeq)	28 Dedifferentiated liposarcoma patients 36 Tendon sheath giant cell tumor patient (Japanese)	Koichi Matsuda	Controlled-Access (Type I)
hum0157.v1 JGAS000164	Cancer clinical sequence and accompanying research for comprehensive genomic and epigenomic analyses	v1:2019/08/19	NGS (Target Capture)	Illumina (NextSeq)	183 cancer patients (Japanese)	Kohei Miyazono	Controlled-Access (Type I)
hum0158.v2 JGAS000151	Genome sequencing analysis for liver cancer	v1:2018/10/22 v2:2019/06/21	NGS (WGS, RNA-seq)	Illumina (HiSeq 2000, Genome Analyzer IIx, NovaSeq 6000)	263 liver cancers (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0159.v1 JGAS000157	Genome sequencing analysis for colorectal cancer	v1:2021/06/01	NGS (WGS)	Illumina (Hiseq 2000)	10 colorectal cancers (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0160.v1 JGAS000155	Genome sequencing analysis for esophageal squamous cell carcinoma	v1:2019/05/28	NGS (WGS)	Illumina (HiSeq 2000/2500/X Five)	20 esophageal squamous cell carcinomas (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0161.v1 JGAS000156	Genome sequencing analysis for hepatoblastoma	v1:2021/06/04	NGS (WGS)	Illumina (Hiseq 2500)	33 hepatoblastomas (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0163.v2	Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology	v1:2018/12/14 v2:2021/02/09	NGS (Target Capture)	Illumina (MiSeq)	990 patients with psychiatric/neurological disorders and cancers (Japanese)	Taisei Mushiroda	Unrestricted-access
hum0164.v1 JGAS000160	Tohoku Medical Megabank Organization cohort study	v1:2018/12/14	SNP-chip	Illumina (Infinium OmniExpressExome-8)	9,187 participants (Japanese)	Masao Nagasaki	Controlled-Access (Type I)
hum0165.v1 JGAS000162	Genetic analysis of familial myelodysplastic syndromes	v1:2019/05/07	NGS (Exome)	Illumina (HiSeq 2500)	2 patients of familial myelodysplastic syndromes (Japanese)	Junji Koya	Controlled-Access (Type I)
hum0166.v1	Multicenter Evaluation of NUDT15-R139C genotyping efficiency to DEtect thiopurine-induced hair Loss and leukopenia (MENDEL study)	v1:2019/07/30	SNP-chip	Affymetrix (Japonica Array v1)	1221 patients of Inflammatory bowel disease (Japanese)	Yoichi Kakuta	Unrestricted-access
hum0167.v1	Study to clarify the pathophysiology of gout / hyperuricemia and uric acid related diseases	v1:2019/07/23	SNP-chip	Illumina (HumanOmniExpressExome-8, 660W-Quad, Omni2.5-8, OmniExpress-12, OmniExpress-24, HumanOmniExpressExome, HumanOmniExpress, HumanExome BeadChip)	121,745 participants of 3 Japanese cohorts (J-MICC study, KING study, BBJ) (Japanese)	Hirotaka Matsuo	Unrestricted-access
hum0168.v1 JGAS000169	Comprehensive genomic analyses of cancers	v1:2019/11/08	NGS (Exome)	Illumina (HiSeq 2500)	51 adenomyosis patients (Japanese)	Masahito Kawazu	Controlled-Access (Type I)
hum0169.v2 JGAS000178	Molecular analysis to identify novel biomarker and therapeutic target for cerebrospinal tumor and preclinical investigation using patient derived orthotopic xenograft models.	v1:2019/06/01 v2:2020/07/17	NGS (Exome)	Illumina (HiSeq 2500)	9 PCNSL patinets (Japanese)	Tetsuya Yamamoto	Controlled-Access (Type I)
hum0173.v1 JGAS000171	A Study on the Health and Development of Children Beginning in the Fetal Period	v1:2019/04/23	NGS (RRBS)	Illumina (NextSeq)	human umbilical cords: 30 samples (Japanese)	Chisato Mori	Controlled-Access (Type I)
hum0174.v2 JGAS000173	Building a Database of Genomic Structural Variants in Japanese population	v1:2020/10/06 v2:2020/11/27	NGS (WGS)	PacBio (Sequel) 10x Genomics (Chromium Controller)	Purified DNA from Japanese-origin B cell liens: 10 + 11 samples	Shinichi Morishita	Controlled-Access (Type I)
hum0175.v1 JGAS000174	Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification in gynecological cancer based on whole-exome sequencing and epigenomic analysis	v1:2019/10/02	NGS (Exome)	Illumina (HiSeq 2000)	69 endometrial carcinomas (Japanese)	Nobuhiro Takeshima	Controlled-Access (Type I)
hum0176.v1 JGAS000172	Comprehensive sequencing analyses of uterine and ovarian carcinosarcoma	v1:2019/10/02	NGS (Exome, Target Capture)	Illumina (HiSeq 2000)	92 uterine carcinosarcomas 17 ovarian carcinosarcomas (Japanese)	Seiichi Mori	Controlled-Access (Type I)
hum0177.v1 JGAS000197	Genetic analysis assciated with malignance of brain tumor	v1:2020/04/27	NGS (WGBS, RNA-seq, ChIP-seq)	Illumina (HiSeq X Ten, NovaSeq 6000)	14 malignant gliomas (Japanese)	Takashi Ito	Controlled-Access (Type I)
hum0179.v1 JGAS000186 DRA009794	Shotgun metagenome analysis of oral microbiome in MRONJ and healthy individuals	v1:2020/04/03	Metagenome	Nanopore (PromethION) Illumina (HiSeq)	4 healthy individuals (Japanese)	Koji Yahara (Genome Science)	Controlled-Access (Type I) Unrestricted-access
hum0180.v1 JGAS000170	Genetic study and evaluation of small molecule compounds for congenital diseases and metabolic disorders caused by an aberrant RNA splicing	v1:2021/03/12	NGS (RNA-seq)	Thermo Fisher Scientific (Ion Proton)	Familial Dysautonomia: 2 cases	Masahiko Ajiro	Controlled-Access (Type I)
hum0181.v1	Aging of steroid production in the adrenal bland.	v1:2019/09/25	Immunohistochemistry	Dako (Autostainer Link 48)	85 anatomical cases who were more than 50 years old (Japanese)	Koshiro Nishimoto	Unrestricted-access
hum0182.v3 JGAS000180 DRA008482	Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing	v1:2019/06/20 v2:2020/05/12 v3:2021/01/06	NGS (WGS)	Nanopore (MinION) Illumina (HiSeq 2000, Genome Analyzer IIx)	liver cancer (normal cell): 174 case liver cancer (tumor tissue): 11 cases HapMap: 1 sample (Japanese)	Akihiro Fujimoto	Controlled-Access (Type I) Unrestricted-access
hum0184.v1 JGAS000239	Construction of Japanese Whole-Genome database	v1:2020/09/01	NGS (WGS)	Illumina (HiSeq 2500, NovaSeq 6000)	4,566 general residents (Japanese)	Masayuki Yamamoto	Controlled-Access (Type II)
hum0187.v2 JGAS000194 JGAS000233	Genomic and genetic analysis of digestive tract cancer and elucidation of its clinicopathological significance.	v1:2020/05/12 v2:2021/05/31	NGS (Target Capture, Exome, RNA-seq), Methylation array	Illumina (MiSeq, HiSeq 2500, Infinium Human Methylation 450K BeadChip)	243 + 160 hepatocellular carcinomas (Japanese)	Hiroyuki Aburatani	Controlled-Access (Type I)
hum0188.v1 JGAS000179	Exploration for molecular targets in gastric cancer cell lines	v1:2019/06/28	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500)	2 gastric cancer cell lines (Cell-line)	Hiroyuki Mano	Controlled-Access (Type I)
hum0191.v1 DRA008575	Development of personalized cancer vaccine targeting individual somatic mutations combined with immunoregulation of tumor microenvironment	v1:2020/06/05	NGS (RNA-seq)	Illumina (HiSeq 1500/4000)	Pancreatic cancer: 17 cases (Japanese)	Kazuhiro Kakimi	Unrestricted-access
hum0192.v1 JGAS000196	A study to verify the usefulness of cell free DNA as a prognostic biomarker after radiation / proton therapy for oligometastasis in colorectal cancer patients	v1:2021/04/23	NGS (Target Capture)	Illumina (NovaSeq 6000)	Colon cancer: 20 cases (Japanese)	Masaki Nakamura	Controlled-Access (Type I)
hum0194.v1 JGAS000189	Molecular mechanisms of drug resistance in cancer	v1:2020/05/11	NGS (Target Capture)	Illumina (MiSeq)	2 lung adenocarcinomas (Japanese)	Ryohei Katayama	Controlled-Access (Type I)
hum0195.v1 JGAS000190 JGAS000234	Comprehensive genetic analysis of gastrointestinal and hepatobiliary tumor	v1:2021/03/26	NGS (WGS, Exome, RNA-seq)	Illumina (HiSeq 4000, NovaSeq 6000) Thermo Fisher Scientific (Ion Proton)	5 nodule-in-nodule hepatocellular carcinomas 20 liver cirrhosis and hepatocellular carcinomas after hepatitis C virus eradication 3 hepatitis C virus positive cirrhosis and hepatocellular carcinomas 2 hepatitis C virus negative hepatocellular carcinomas (Japanese)	Atsushi Takai	Controlled-Access (Type I)
hum0196.v1	Identification of biomarker for suicide prevention using blood and brain samples of completed suicide	v1:2019/12/20	SNP-chip	Illumina (HumanOmniExpress-24 BeadChip, HumanOmniExpressExome-8 BeadChip)	Suicide: 746 cases Non-suicide: 14,049 cases (Japanese)	Akitoyo Hishimoto	Unrestricted-access
hum0197.v3 JGAS000205 JGAS000260	Elucidation of disease state by multi-layered omics analysis	v1:2019/11/15 v2:2020/11/27 v3:2021/03/22	Metagenome SNP-chip	Illumina (HiSeq 3000, Infinium Asian Screening Array, HumanOmniExpressExome BeadChip, HumanOmniExpress BeadChip, HumanExome BeadChip) Applied Biosystems (UK BiLEVE Axiom Array, UK Biobank Axiom Array) Thermo Fisher Scientific (FinnGen1 ThermoFisher Array or other genotyping arrays)	95 + 103 + 179,000 individuals Autoimmune pulmonary alveolar proteinosis: 198 cases 395 Control participants UK biobank: 361,000 FinnGen: 136,000 (Japanese, British, Finnish)	Yukinori Okada	Controlled-Access (Type I) Unrestricted-access
hum0199.v1 JGAS000198	Identification of therapeutic target molecules in urological malignancies by using next generation sequencer	v1:2020/06/29	NGS (RNA-seq)	Illumina (HiSeq 2500)	Prostate cancer: 25 cases (Japanese)	Tetsuya Fujimura	Controlled-Access (Type I)
hum0200.v2 JGAS000202 JGAS000265	Analysis of somatic mutations and gene expression abnormalities involved in mammary tumor phenotype	v1:2021/03/29 v2:2021/05/07	NGS (Exome, WGS) CNV Methylation analysis	Illumina (HiSeq 3000, NovaSeq 6000) 10x Genomics (Chromium Controller) Nanopore (PromethION)	24 + 3 Ductal Carcinoma In Situ (Japanese)	Satoi Nagasawa (Genome Science)	Controlled-Access (Type I)
hum0201.v3 JGAS000199 JGAS000237 JGAS000256	Collection and transfer of human tumor samples and research using genomic information Transfer of existing samples and research using genomic information Reseach of searching gene mutations in gastrointestinal chronic inflammatory diseases	v1:2019/12/20 v2:2020/10/06 v3:2020/11/20	NGS (Exome, WGS, RNA-seq)	Illumina (HiSeq 2500/4000/X Ten, NovaSeq 6000)	gastrointestinal inflammatory disease: 29 cases gastrointestinal inflammatory disease with neoplastic disease: 26 cases control patients who underwent colonoscopy: 16 individuals neoplastic disease: 23 + 1 cases (Japanese)	Toshiro Sato	Controlled-Access (Type I)
hum0203.v1 JGAS000206	Establishment of an integrated database for clinical and genomic data in cancer	v1:2020/06/01	NGS (Target Capture)	Illumina (HiSeq 2500)	154 patients with multiple myeloma (Japanese)	Keizo Horibe	Controlled-Access (Type I)
hum0206.v1 JGAS000207	Establishment and characterization of cell lines derived from pregnancy related diseases	v1:2019/11/26	NGS (WGBS, RNA-seq)	Illumina (HiSeq 1500/2500)	complete hydatidiform mole: 3 cases (Japanese)	Takahiro Arima	Controlled-Access (Type I)
hum0207.v1	Analysis of gene polymorphism and gene expression in human immune cells	v1:2020/01/06	NGS (RNA-seq, ChIP-seq, Hi-C) eQTL	Illumina (HiSeq 2500, HiSeq series, Infinium OmniExpressExome BeadChips)	rheumatoid arthritis: 30 cases osteoarthritis: 30 cases (Japanese)	Keishi Fujio	Unrestricted-access
hum0208.v1 JGAS000214	Comprehensive genetic analysis and database construction for head and neck cancer	v1:2020/01/20	NGS (Exome)	Illumina (HiSeq X Ten)	10 patients with cancer of the external auditory canal (Japanese)	Takashi Nakagawa	Controlled-Access (Type I)
hum0209.v1	Genetic and clinical prediction models for the efficacy and hepatotoxicity of methotrexate in patients with rheumatoid arthritis: a multicenter cohort study	v1:2019/12/13	SNP-chip Direct sequencing	Thermo Fisher Scientific (GeneChip® Scanner 3000 7G) Applied Biosystems (Veriti 96-Well Thermal Cycler and 3730XL DNA Analyzer)	Rheumatoid arthritis: 166 cases (Japanese)	Shunichi Kumagai	Unrestricted-access
hum0210.v1 JGAS000211	Comprehensive genomic analysis of hematological malignancies	v1:2020/04/06	NGS (Exome)	Illumina (NextSeq 500)	1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor (Japanese)	Kazuya Shimoda	Controlled-Access (Type I)
hum0214.v3 JGAS000220 E-GEAD-397 E-GEAD-398 E-GEAD-420	Integrative understanding of human immune system by functional genomics and development of intervention strategies for the prevention of autoimmune diseases	v1:2020/10/09 v2:2021/03/05 v3:2021/04/28	NGS (RNA-seq)	Illumina (HiSeq 2500) eQTL	10 Immune-mediated diseases: 339 cases 92 normal controls (Japanese)	Keishi Fujio	Controlled-Access (Type I)
hum0216.v4 JGAS000216 JGAS000244 JGAS000279	Analyses of immune status of patients with solid tumors including gastrointestinal cancer Investigation of anti-tumor immunological response in solid tumors	v1:2020/02/07 v2:2020/09/25 v3:2021/03/29 v4:2021/04/13	NGS (Exome)	Illumina (HiSeq 2500, NovaSeq 6000)	17 patients with lung adenocarcinoma 26 + 23 patients with gastric cancer 9 patients with lung cancer 5 patients with malignant melanoma 7 patients with cololectal cancer (Japanese)	Hiroyoshi Nishikawa	Controlled-Access (Type I)
hum0217.v1 JGAS000217	Identification of genetic alterations predicting cancer progression from colorectal polyps	v1:2020/03/02	NGS (Target Capture)	Thermo Fisher Scientific (Ion Torrent)	50 colorectal serrated lesions (Japanese)	Takeshi Sawada	Controlled-Access (Type I)
hum0218.v1 E-GEAD-344	Gene expression analysis in systemic sclerosis	v1:2020/10/09	NGS (scRNA-seq)	Illumina (HiSeq)	Systemic sclerosis: 3 cases (Japanese)	Keishi Fujio	Unrestricted-access
hum0220.v1 JGAS000223	A study of influence of storage condition after blood collection on the plasma/serum comcentrations of compounds	v1:2020/06/02	LC-MS/MS	Sciex (TripleTOF 5600)	3 heathy individuals (Japanese)	Sumio Ohtsuki (AMED-Metabolites)	Controlled-Access (Type I)
hum0222.v1 JGAS000224	Identification of responsible genes and development of standardized medicine for familial breast cancer by genetic analysis with NGS technology	v1:2020/03/13	NGS (Target Capture)	Illumina (HiSeq 2000)	115 breast cancer patients (Japanese)	Shinji Ohno	Controlled-Access (Type I)
hum0223.v1 JGAS000232	The analyses of gene mutations in hematology malignancy	v1:2020/09/01	NGS (Target Capture)	Thermo Fisher Scientific (Ion Proton)	7 patients with multiple myeloma (Japanese)	Yasuhito Terui	Controlled-Access (Type I)
hum0225.v1 JGAS000226	Mortality and risk of progression to adult T-cell leukemia/lymphoma in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis	v1:2020/05/08	NGS (Target Capture)	Illumina (HiSeq 2500/3000)	HAM: 21 cases (Japanese)	Makoto Yamagishi	Controlled-Access (Type I)
hum0226.v1 JGAS000229	Genomic and genetic analysis of upper gastrointestinal tumors and elucidation of its clinicopathological significance.	v1:2021/06/04	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500)	141 stomach adenocarcinomas (Japanese)	Hiroyuki Aburatani	Controlled-Access (Type I)
hum0227.v1 JGAS000228	Genomic and genetic analysis of gastric tumors and elucidation of its clinicopathological significance.	v1:2021/06/04	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500)	102 stomach adenocarcinomas (Japanese)	Hiroyuki Aburatani	Controlled-Access (Type I)
hum0229.v1 JGAS000230	Identification and characterization of molecular markers in aging and neuronal disorders	v1:2020/05/15	NGS (scRNA-seq)	Illumina (HiSeq 2500)	7 supercentenarians 2 family members 2 unrelated donors (Japanese)	Piero Carninci	Controlled-Access (Type I)
hum0232.v1 JGAS000231	Evaluation of metastasis and recurrence by monitoring circulating tumor DNA of gastric cancer	v1:2020/06/01	NGS (Target Capture)	Illumina (HiSeq 2000)	10 gastric cancer patients (Japanese)	Satsoshi Nishizuka	Controlled-Access (Type I)
hum0233.v1 JGAS000236	Paediatric Hepatic International Tumour Trial (JPLT4: PHITT)	v1:2021/05/31	NGS (Exome, RNA-seq, WGBS) SNP array Methylation array	Illumina (HiSeq 2500, Infinium Human Methylation 450K BeadChip) Affymetrix (SNP Array 6.0)	165 pediatric hepatoblastomas (Japanese)	Eiso Hiyama	Controlled-Access (Type I)
hum0235.v1 JGAS000272	Evaluation and imaging study of the preclinical stage of Alzheimer's disease in Japan	v1:2021/04/06	Neuroimage Clinical Info	MRI Scanners (9 Models) PET Scanners (11 Models)	25 healthly controls 3 preclinical AD 7 early MCI 5 late MCI (Japanese)	Hiroyuki Shimada	Controlled-Access (Type I) Unrestricted-access
hum0236.v1 JGAS000245	Development of tumor infiltrating lymphocytes therapy targeting gene mutation of lung cancer	v1:2020/12/14	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500) Nanopore (MinION)	7 non-small cell lung cancer patients (Japanese)	Tetsuya Nakatsura	Controlled-Access (Type I)
hum0237.v1	Whole genome and RNA analysis of geriatric disease in Japanese	v1:2021/03/05	SNP-chip	Affymetrix (Japonica Array, GeneChip 6.0 microarrays)	Alzheimer's disease: 3,962 cases 4,074 controls (Japanese)	Kouichi Ozaki	Unrestricted-access
hum0238.v1 JGAS000240	Development of personalized medicine	v1:2020/07/28	NGS (WGS)	Illumina (HiSeq 2500)	3 participants of BBJ (Japanese)	Yukihide Momozawa	Controlled-Access (Type I)
hum0239.v1 JGAS000241	Genomic and Proteomic comprehensive analysis related to cancer, infectious diseases, intractable diseases and lifestyle-related diseases	v1:2020/07/27	NGS (Target Capture)	Thermo Fisher Scientific (Ion Proton)	19 patients with urothelial bladder cancer (Japanese)	Yosuke Hirotsu	Controlled-Access (Type I)
hum0240.v1 JGAS000258	Whole genome sequence analysis in patients with primary central nervous system lymphomas	v1:2020/10/30	NGS (Target Capture)	Thermo Fisher Scientific (Ion Torrent)	28 PCNSL patinets (Japanese)	Ryuya Yamanaka	Controlled-Access (Type I)
hum0242.v1 JGAS000243	Frequent post-treatment monitoring of colorectal cancer using individualized ctDNA validated by multi-regional molecular profiling	v1:2021/01/05	NGS (Target Capture)	Illumina (HiSeq 2000)	12 colorectal cancer patients (Japanese)	Satsoshi Nishizuka	Controlled-Access (Type I)
hum0243.v1 JGAS000253	Development of humanized mice for human immunity research/Construction of disease and treatment model using iPS cells derived from human hematopoitec cells.	v1:2020/11/20	NGS (RNA-seq, CAGE-seq)	Illumina (HiSeq 2500)	Cord blood: 24 individuals Acute Myeloid Leukemia: 116 cases (Japanese)	Fumihiko Ishikawa	Controlled-Access (Type I)
hum0247.v1 JGAS000249 DRA010773	Research for gene mutations in cancer representing immune status of the patients	v1:2021/01/04	NGS (Exome)	Illumina (HiSeq 1500)	3 malignant melanoma patients (Japanese)	Takashi Iwata	Controlled-Access (Type I) Unrestricted-access
hum0248.v2 JGAS000259	Establishment of a Japanese reference genome sequence by high-precision long-read sequencing	v1:2020/10/30 v2:2020/11/06	NGS (WGS)	PacBio (RS II) Bionano (Irys, Saphyr) Illumina (HiSeq 2500)	3 Japanese male individuals (Japanese)	Masayuki Yamamoto	Unrestricted-access Controlled-Access (Type II)
hum0249.v1 JGAS000248	Elucidation of pathological conditions and development of therapeutic methods using iPS cells derived from patients with hard tissue/connective tissue related diseases	v1:2020/09/01	NGS (CAGE-seq)	Illumina (NextSeq 500)	3 patients with hard tissue/connective tissue related diseases (Japanese)	Toshifumi Azuma	Controlled-Access (Type I)
hum0250.v1 JGAS000277	Brain Mapping by Integrated Neurotechnologies for Disease Studies: Human Brain Aging Imaging Study	v1:2021/03/29	Neuroimage Clinical Info	MRI Scanners (1 Model) PET Scanners (1 Model)	11 MCI 28 healthly controls (Japanese)	Takeshi Iwatsubo	Controlled-Access (Type I)
hum0261.v2	Genome-wide association study of primary biliary cholangitis (PBC) －an additional study of 1,000 Japanese PBC patients－	v1:2021/01/08 v2:2021/01/19	SNP-chip	Affymetrix (Axiom Genome-Wide ASI 1 Array, Japonica Array v1)	1,953 PBCs and 3,690 healthy controls (Japanese)	Minoru Nakamura	Unrestricted-access
hum0262.v1 JGAS000267	Identification of biomarkers for prediction of efficacy of microtubule inhibitors and antifolates in non-small cell lung cancer	v1:2021/05/11	NGS (RNA-seq)	Illumina (HiSeq 1500/2500)	Lung Adenocarcinoma: 24 cases (Japanese)	Katsuya Tsuchihara	Controlled-Access (Type I)
hum0268.v1 JGAS000280	Direct and comprehensive identification of neoantigens using cancer tissues	v1:2021/04/09	NGS (Iso-seq, CAGE-seq, RNA-seq)	Illumina (NextSeq 500, NovaSeq 6000) PacBio (Sequel)	Human colon cancer cell line: 1 sample (Cell-line) Colon cancer: 6 patients (Japanese)	Takayuki Kanaseki	Controlled-Access (Type I)
hum0269.v1 JGAS000295	Sensitive gene analysis of hereditary cardiovascular disease	v1:2021/05/25	NGS (Exome, RNA-seq)	Illumina (HiSeq 2500/3000)	hereditary cardiovascular disease: 13 cases (Japanese)	Yoshihiro Asano	Controlled-Access (Type I)
hum0271.v1 JGAS000288	Comprehensive genome analysis related to individual differences in phenotypic expression in autosomal dominant diseases caused by haploinsufficiency	v1:2021/05/11	NGS (Target Capture, Target RNA-seq)	Illumina (Miseq)	20 patients with neurofibromatosis type 1 (Japanese)	Yo Niida	Controlled-Access (Type I)

Research ID

Study Title

Release Date

Type of Study

Platform

Participants/Materials

(Ethnicity)

Data Provider

Type of Data

hum0001.v1

JGAS000002

Sequence Data of a SCA31 Patient

v1:2013/12/01

Single Patient

NGS (WGS)

Illumina

(HiSeq 2000)

1 Patient

(Japanese)

Shinichi Morishita

Controlled-Access

(Type I)

hum0004.v1

JGAS000001

Molecular Epidemiological Study of

Somatic Mutation Profiles of EGFR

Mutation Positive Lung Adenocarcinoma

v1:2014/07/11

NGS (Exome)

Illumina

(Genome Analyzer IIx)

97 Patients

(Japanese)

Koichi Goto

Controlled-Access

(Type I)

hum0005.v5

DRA001273

JGAS000032

DRA003791

JGAS000093

JGAS000123

JGAS000166

Genetic Analysis of Hearing Loss and Its Clinical Application

v1:2014/01/27

v2:2017/02/24

v3:2017/06/19

v4:2018/02/13

v5:2019/04/18

NGS

(Target Capture)

Life technoligies

(Ion PGM/IonProton)

Illumina

(HiSeq 2000)

17 UsherSyndrome patients

121 Non-syndromic hearing loss patients

(Japanese)

Shin-ichi Usami

Un-restricted Access

Controlled-Access

(Type I)

hum0006.v4

JGAS000004

JGAS000106

JGAS000146

Genomic and Genetic Analysis of Brain Tumors and

Analysis of Their Clinicopathological Significance

v1:2014/01/31

v2:2017/06/05

v3:2017/09/01

v4:2019/02/13

NGS

(Exome, RNA-seq)

Methylation array

Illumina

(HiSeq 2000,

HumanMethylation450 BeadChip)

6 astrocytomas

16 oligodendrogliomas

gliomas (17 cerebellar gliomas, 8 cerebral glioblastomas and 14 thalamic gliomas)

94 gliomas

(Japanese)

Nobuhito Saito

(P-DIRECT)

Controlled-Access

(Type I)

hum0007.v1

JGAS000005

Gene Expression of Human Th17 Cells

Before and After Activation

v1:2015/02/12

NGS

(RNA-seq)

Applied BioSystems

(AB5500 GA)

1 Participant

(4 Samples)

(Japanese)

Sanju Iwamoto

Controlled-Access

(Type I)

hum0008.v1

JGAS000007

Research for genetic causes and mechanisms of Hirschsprung's

v1:2018/01/29

NGS

(Exome)

Illumina

(HiSeq 2000)

5 Patients with Hirschsprung's diseases

and 6 their families

(Japanese)

Hiroshi Matsufuji

Controlled-Access

(Type I)

hum0009.v3

DRA003802

DNA Methylation Analysis of Early Human Embryos

v1:2014/12/24

v2:2015/01/07

v3:2015/08/03

NGS

(PBAT)

Illumina

(HiSeq 2000/2500)

11 Libraries

(Japanese)

Takahiro Arima

Un-restricted Access

hum0010.v1

JGAS000008

Research for candidate genes of splenic epidermoid cyst.

v1:2015/06/23

NGS

(Exome)

Illumina

(HiSeq 2000)

8 Splenic epidermoid cysts

(Japanese)

Hiroshi Matsufuji

Controlled-Access

(Type I)

hum0011.v1

JGAS000015

Integrated hepatitis B virus is epigenomically regulated by the methylation status of the human genome

v1:2015/10/07

NGS

(Target Capture)

Roche GS FLX Titanium

2 Cell lines

8 HB-HCC primary tissues

(Japanese)

Hiroyuki Yamamoto

Controlled-Access

(Type I)

hum0012.v1

JGAS000012

Nagahama Zero-ji Preventive Cohort Project

v1:2015/08/19

SNP-chip

Control Set

Cohort

Illumina

(Human610-Quad,

HumanOmni2.5-4/2.5-8/2.5S-8,

HumanExome-12,

HumanCoreExome-12)

3712 Participants

(Japanese)

Fumihiko Matsuda

Controlled-Access

(Type I)

hum0013.v1

Japan PGx Data Science Consortium Database

v1:2014/10/16

SNP-chip

Control Set

Illumina

(HumanOmni2.5-8)

2994 Participants

(Japanese)

Koji Suematsu

Un-restricted Access

hum0014.v22

JGAS000101

JGAS000114

JGAS000140

JGAS000203

JGAS000293

Bio Bank Japan project

v1:2014/09/30

v2:2015/12/28

v3:2016/01/28

v4:2016/02/02

v5:2017/05/18

v6:2017/09/08

v7:2018/04/04

v8:2018/05/01

v9:2018/08/07

v10:2018/08/13

v11:2018/10/16

v12:2018/12/10

v13:2019/01/25

v14:2019/03/26

v15:2019/09/27

v16:2019/10/07

v17:2019/10/08

v18:2019/11/26

v19:2020/04/20

v20:2020/08/17

v21:2020/08/25

v22:2021/05/21

SNP-chip

Case-Control

NGS

(WGS, Target Capture)

Illumina

(Human610-Quad, HumanHap550v3, HumanOmniExpress-12, HumanExome, OmniExpressExome, HiSeq 2500)

Perlegen Sciences

(high-density oligonucleotide arrays)

Hologic Japan

(Invader)

v1:1666 MIs and 3198 ctrls

v2:934 ctrls (JSNP)

v2:35 diseases (JSNP)

v2:182 esophageal cancers (JSNP)

v2:92 ALSs (JSNP)

v3:9817 T2DMs and 6763 ctrls

v3:5646 T2DMs and 19,420 ctrls

v4:1472 ADs and 7966 ctrls

v5:8180 AFs and 28,612 ctrls

v6:158,284 individuals for BMI study

v6:182,505 individuals' genotype data

v7:3980 POAGs and 18,815 ctrls

v8:162,255 individuals for 58 quantitative traits study

v9:67,029 females with information on age at menarche

v9:43,861 females with information on age at menopause

v10:1,026 individuals for WGS

v11:7,104 breast cancer patients and 23,731 controls

v12:2,809 T2DM with diabetic nephropathy patients and 5,592 T2DM ctrls

v13:36,614 T2DMs and 155,150 ctrls

v14:165,436 individuals with information on smoking behaviour

v15:1,026 individuals from biobank Japan and 2,504 individuals from 1KGP p3v5 ALL

v15:159,095 individuals for height study

v16:7,636 prostate cancer patients and 12,366 ctrls

v17,18,21:212,453 individuals for 42 diseases

v19:165,084 individuals with information on dietary habits

v2025,892 CADs and 142,336 ctrls

v22:11,234 individuals from biobank Japan

(Japanese)

Michiaki Kubo

Un-restricted Access

Controlled-Access

(Type I)

hum0015.v3

JGAS000159

Construction of the Whole-genome Reference

Panel of 3552 Japanese Individuals

v1:2014/10/14

v2:2018/12/27

v3:2019/01/11

NGS

(WGS)

Illumina

(HiSeq 2500)

3552 Participants

(Japanese)

Masayuki Yamamoto

(ToMMo)

Un-restricted Access

hum0016.v1

DRA002604

Epigenome analysis of proteins expressed in human testis

v1:2016/09/30

NGS

(ChIP-seq, RNA-seq)

Illumina

(HiSeq 1500)

1 Participant

(4 Samples)

(Japanese)

Yasuyuki Ohkawa

Un-restricted Access

hum0017.v1

JGAS000021

Exome sequencing of primary central nervous system lymphoma

v1:2016/02/22

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2000)

41 PCNSLs

(Japanese)

Hiroyuki Mano

Controlled-Access

(Type I)

hum0018.v1

JGAS000009

Genetic analysis in neurodegenerative disorders

v1:2015/02/03

NGS

(Exome)

Illumina

(HiSeq 2000)

14 MSAs and 7 Controls

(Japanese)

Shoji Tsuji

Controlled-Access

(Type I)

hum0019.v1

JGAS000011

Systematic identification of long non-coding RNAs potentially involved in gastrointestinal cancer

v1:2015/04/01

NGS

(RNA-seq)

Tumor vs. Matched-Normal

Illumina

(HiSeq 2500)

17 GICs

(32 Samples)

(Japanese)

Yasuhisa Shinomura

(Genome Science)

Controlled-Access

(Type I)

hum0020.v1

JGAS000013

Genetic Analysis in Amyotrophic Lateral Sclerosis

v1:2015/01/08

NGS

(Exome)

Illumina

(HiSeq 2000)

11 ALSs

(Japanese)

Fumiaki Tanaka

(Genome Science)

Controlled-Access

(Type I)

hum0021.v3

JGAS000014

JGAS000273

Genetic Analysis in Psychiatric Disorders

v1:2015/01/08

v2:2021/03/05

v3:2021/04/20

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

Healthy Monozygotic Twins: 3 Pairs (6 Participants)

66 + 78 trios with bipolar disorder proband and unaffected parents

(Japanese)

Tadafumi Kato

(Genome Science)

Controlled-Access

(Type I)

hum0022.v1

JGAS000017

Analysis of the Molecular Mechanism for Developing Donor-Origin Leukemia after Allogeneic Stem Cell Transplantation.

v1:2015/02/02

NGS

(Exome)

Illumina

(HiSeq 2000)

1 DCL (5 Samples from Each Stage)

1 Donor

(Japanese)

Hitoshi Kiyoi

(P-DIRECT)

Controlled-Access

(Type I)

hum0023.v1

JGAS000016

Genetic Analysis in Lifestyle-Related Disease,

Arteriosclerotic Disease, and

Aging-Related Diseases

v1:2015/01/28

NGS

(Exome)

Illumina

(HiSeq 2000)

30 Hypertensions

(Japanese)

Tetsurou Miki

(Genome Science)

Controlled-Access

(Type I)

hum0024.v1

JGAS000023

Comprehensive Analysis of Genetic Alterations in Hematological Malignancies

v1:2015/04/16

NGS

(Exome)

Illumina

(Genome Analyzer IIx, HiSeq 2000/2500)

13 MDSs and 1 CMML

(Japanese)

Seishi Ogawa

(P-DIRECT)

Controlled-Access

(Type I)

hum0027.v1

JGAS000024

JGAS000040

Identification of genetic polymorphism on aggressive periodontitis

v1:2016/07/28

NGS

(Exome)

Illumina

(HiSeq 2000)

Periodontitis patients

(Japanese)

Shinya Murakami

Controlled-Access

(Type I)

hum0028.v2

JGAS000018

Biobank Japan Project

v1:2015/06/02

v2:2018/06/05

SNP-chip

Illumina

(HumanOmniExpress BeadChip,

HumanExome BeadChip,

ImmunoChip,

HumanHap550v3 Genotyping BeadChip)

908 Participants

(Japanese)

Michiaki Kubo

(BBJ)

Controlled-Access

(Type I)

hum0029.v2

Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome

v1:2016/03/09

v1:2020/12/21

SNP-chip

Case-Control

Affymetrix

(Axiom ASI)

Illumina

(HiSeq X Ten)

117 SJSs and 691 controls

133 SJS/TENs and 418 controls

(Japanese)

Mayumi Ueta

(Genome Science)

Un-restricted Access

hum0030.v1

JGAS000022

The Molecular Biological Analysis

about Occurrence and Malignant Transformation

in gynecological carcinogenesis

v1:2015/04/21

SNP-chip

CNV Analysis

Affymetrix

(Human Mapping 250K

Nsp Array)

57 OvarianCarcinomas

(Japanese)

Katsutoshi Oda

(P-DIRECT)

Controlled-Access

(Type I)

hum0031.v1

JGAS000042
JGAS000043
JGAS000044
JGAS000045

Constructing database of magnetic resonance imaging of the brain and the ancillary clinical information for multisite collaboration studies

v1:2015/11/20

Neuroimage

Clinical Info

Philips

(Achieva)

129 normal controls, 37 schizophrenia, 8 unipolar and 2 bipolar disorders

(Japanese)

Kiyoto Kasai

Controlled-Access

(Type I)

Un-restricted Access

hum0032.v1

JGAS000026

JGAS000027

JGAS000028

Standard epigenome mapping in human epithelial cells of the digestive and urogenital organs

(HPC series)

v1:2016/07/22

NGS

(WGBS

ChIP-seq

RNA-seq)

Illumina

(HiSeq 2000/2500)

8 partial hepatectomy specimens

(Japanese)

Yae Kanai

(IHEC)

Controlled-Access

(Type I)

hum0033.v1

DRA003516

Functional analysis of two types of exosome

in human whole saliva

v1:2015/05/01

NGS

(RNA-seq)

Illumina

(Genome Analyzer IIx)

1 Participant

(3 Samples)

(Japanese)

Ryohei Yanoshita

Un-restricted Access

hum0034.v1

JGAS000037

Identification of novel therapeutic targets of

small cell lung cancer by comprehensive genomic analyses

v1:2015/10/01

NGS

(Exome)

Illumina

(HiSeq 2000)

51 SCLCs

(Japanese)

Koichi Goto

(P-DIRECT)

Controlled-Access

(Type I)

hum0035.v5

JGAS000036

JGAS000046

JGAS000088

JGAS000188

JGAS000204

JGAS000246

Genome wide analysis of gene mutations in solid tumors

v1:2015/09/16

v2:2017/12/26

v3:2020/05/29

v4:2020/12/14

v5:2020/12/18

NGS

(Exome, Target Capture, RNA-seq)

SNP-chip

Methylation array

Illumina

(HiSeq 2000/2500, MiSeq, Infinium MethylationEPIC)

Affymetrix

(GeneChip Human Mapping 250k Nspl, CytoScan HD arrays)

16 RMSs

7 PPBs

522 NBs

39 neuroblastoma cell lines

10 PBLs

59 HBLs

2 HBL cell lines

51 patients with pediatric germ cell tumors

30 patients with high-risk neuroblastoma

(Japanese)

Junko Takita

(P-DIRECT)

Controlled-Access

(Type I)

hum0036.v1

DRA003736

Performance Comparison of Four Commercial Human Whole-Exome Capture Platforms

v1:2015/08/01

NGS

(Exome)

Platform comparison

Illumina

(HiSeq 2500)

2 HapMap-JPT samples

(Japanese)

Michiaki Kubo

Un-restricted Access

hum0037.v1

JGAS000035

Diagnostic feasibility study for pathological prediction with rheumatoid arthritis-susceptible genes and genomic regions identified by the association analysis using microsatelite markers

v1:2015/09/24

NGS

(Exome)

Illumina

(HiSeq 2000)

39 RAs

10 Controls (pooled)

(Japanese)

Shigeki Mitsunagai

(Genome Science)

Controlled-Access

(Type I)

hum0038.v1

JGAS000041

Genetic analysis in an inherited cardiac arrhythmia

v1:2015/11/18

NGS

(Exome)

Illumina

(HiSeq 2000)

11 Patients with an inherited cardiac arrhythmia

(Japanese)

Naomasa Makita

(Genome Science)

Controlled-Access

(Type I)

hum0039.v1

JGAS000039

Analysis of TKI resistant mechanism for gastrointstinal stromal tumor (GIST)

v1:2016/12/27

NGS

(Exome)

Illumina

(HiSeq 1500)

4 Imatinib resistant GIST

(Japanese)

Tsuyoshi Takahashi

Controlled-Access

(Type I)

hum0040.v1

JGAS000038

Epigenomic analysis of the human placenta

v1:2016/09/16

NGS

(WGS, Exome, RNA-seq, BS-seq)

Illumina

(HiSeq 2500)

28 human placenta

26 maternal blood samples

(Japanese)

Takahiro Arima

(IHEC)

Controlled-Access

(Type I)

hum0041.v1

JGAS000052

Research of factors related to diagnosis, progression, prognosis and treatment of hepato-biliary-pancreatic malignancies

v1:2017/01/12

NGS

(Exome, Target Capture)

Illumina

(HiSeq 2000)

33 primary HCC

(Japanese)

Shinji Tanaka

(P-DIRECT)

Controlled-Access

(Type I)

hum0042.v1

Genome analysis for elucidation of genetic factors in orofacial traits and diseases

v1:2016/03/02

NGS

(WGS)

Illumina

(HumanOmniExpress BeadChip)

146 TMJ and 374 controls

149 third molar agenesis and 338 controls

(Japanese, Korean)

Tetsutarou Yamaguchi

(Genome Science)

Controlled-Access

(Type I)

hum0043.v1

JGAS000051

Japanese Alzheimer's disease neuroimaging initiative (J-ADNI)

v1:2016/01/29

Neuroimage

Clinical Info

MRI Scanners (15 Models)

PET Scanners (16 Models)

234 MCI

154 AD

149 healthly controls

(Japanese)

Takeshi Iwatsubo

Controlled-Access

(Type I)

Un-restricted Access

hum0044.v1

DRA004162

Research about retrovirus infection

v1:2016/10/31

NGS

(ChIP-seq)

Illumina

(NextSeq 500)

1 ED (ATL cell line)

(Cell-line)

Yorifumi Satou

Un-restricted Access

hum0045.v1

JGAS000047

Transcriptome analysis of acute lymphoblastic leukemia in adolescents and young adults

v1:2016/03/29

NGS

(RNA-seq)

Illumina

(HiSeq 2000/2500)

99 Ph(-) ALL

3 Ph(+) ALL

5 cell lines

8 normal hematopoietic cells

(Japanese)

Hiroyuki Mano

(P-DIRECT)

Controlled-Access

(Type I)

hum0048.v1

DRA004251

Whole exome sequencing on ampullary carcinomas

v1:2016/02/05

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

60 Patients with ampullary cancer

(28 Japanese patients and 32 American patients)

Shinich Yachida

Un-restricted Access

hum0050.v1

JGAS000053

Transcriptome analysis of Hepatitis B for drug discovery and clinical applications

v1:2016/09/30

NGS

(CAGE-seq)

Illumina

(HiSeq 2000)

8 HBV (Genotype C) positive patients

(Japanese)

Tomokazu Matsuura

Controlled-Access

(Type I)

hum0053.v2

JGAS000062

JGAS000176

Identification of new molecular targets with profiling of malignant mesothelioma

v1:2016/07/20

v2:2020/04/14

NGS

(Exome, WGS)

Illumina

(HiSeq 2000/2500)

10x Genomics

(Chromium Controller)

38 Malignant pleural mesothelioma

(Japanese)

Takashi Nakano

(P-DIRECT)

Controlled-Access

(Type I)

hum0055.v1

JGAS000059

Genetic and epigentic analysis of non-alcoholic fatty liver disease

v1:2017/02/20

NGS

(RNA-seq)

Methylation array

Illumina

(HiSeq 2500, Human Methylation 450K BeadChip)

64 NAFLD patients

(Japanese)

Kikuko Hotta

(Genome Science)

Controlled-Access

(Type I)

hum0056.v1

Genome and Multi-layer omics reference panels using blood samples from a population-based cohort study

v1:2018/03/30

NGS

(WGS, WGBS, RNA-seq)

Illumina

(HiSeq 2500/X)

197 participants

(Japanese)

Atsushi Shimizu

Un-restricted Access

hum0058.v1

JGAS000091

Identification of genetic mutations characteristic for recurrence and metastasis of colorectal cancer.

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

89 colorectal cancers

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-Access

(Type I)

hum0059.v1

JGAS000104

Identification of genetic mutations characteristic for recurrence of serous ovarian cancer

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

65 ovarian cancer

(Japanese)

Kazuyoshi Kato

(P-DIRECT)

Controlled-Access

(Type I)

hum0060.v1

JGAS000075

Identification of genetic mutations characteristic for recurrence and metastasis of breast cancer

v1:2018/04/03

NGS

(Exome)

Illumina

(HiSeq 2000)

65 recurrent / metastatic breast cancer patients

(Japanese)

Yoshio Miki

(P-DIRECT)

Controlled-Access

(Type I)

hum0061.v1

JGAS000057

Searching causative genes of familial tumors using whole genome / exome sequencing

v1:2017/02/20

NGS

(Exome)

Illumina

(HiSeq 2000)

Siblings developed multiple primary lung cancers

(Japanese)

Kikuya Kato

Controlled-Access

(Type I)

hum0064.v1

JGAS000061

Construction of Geriatric Oncology Database for establishment of the Treatment Algorithm: Clinical Data and Questionnaire Survey Results in JapaneseElderly Cancer Patients Retrospective study

v1:2016/08/26

Direct sequencing

TaqMan

qRT-PCR

COBRA

cDNA microarray

Clinical data

Treatment data

GA 3130

LightCycler 480II

Whole Human Genome Microarray 4x44K

[GENOME]

106 colorectal cancer

62 gastric cancer

173 lung cancer

[Retrospective]

313 colorectal cancer

166 gastric cancer

344 lung cancer

300 diabetes and nephropathy

357 cardiovascular disorder

49 respiratory dysfunction

(Japanese)

Masahiko Nishiyama

Controlled-Access

(Type I)

hum0065.v1

JGAS000089

Shuttle system between petient-derived xenograft and ex vivo culture for innovative platform of evaluating drug sensitivity

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

8 colorectal cancer

2 lung cancer

2 small cell carcinoma of uterine cervix

(Japanese)

Masahiro Inoue

(P-DIRECT)

Controlled-Access

(Type I)

hum0066.v1

JGAS000060

Investigating the mechanisms of tumor recurrence and metastasis by non-coding RNA

v1:2016/08/01

NGS

(Exome)

Illumina

(HiSeq 2000)

9 colorectal carcinomas

(Japanese)

Koshi Mimori

Controlled-Access

(Type I)

hum0067.v1

JGAS000076

Project for Development of Innovative Research on Cancer Therapeutics; identifiying the predictive factors for response to chemoherapy in ovarian cancer

v1:2017/05/18

NGS

(Exome)

Illumina

(HiSeq 2000)

55 ovarian clear cell carcinoma patients

(Japanese)

Toru Sugiyama

(P-DIRECT)

Controlled-Access

(Type I)

hum0068.v2

JGAS000065

Cancer genomics for elucidation of molecular mechanisms of carcinogenecis and progression in lung cancer

v1:2017/07/10

v2:2020/10/19

NGS

(PCR amplicon Seq, WGS)

Nanopore

(MinION, PromethION)

Illumina

(NovaSeq 6000)

8 + 21 lung adenocarcinoma patients

(Japanese)

Takashi Kono

Controlled-Access

(Type I)

hum0069.v1

JGAS000064

RNA expression profiling of neuromuscular diseases and viral diseases

v1:2016/12/09

NGS

(small RNA-seq)

Illumina

(HiSeq 2500)

3 Neuromuscular disease (control group)

(Japanese)

Takanori Yokota

Controlled-Access

(Type I)

hum0070.v1

JGAS000115

Molecular analysis of Birt-Hogg-Dube syndrome: Identification of new diagnostic marker and therapeutic target

v1:2018/05/11

NGS

(Exome)

Illumina

(HiSeq 2000)

15 Birt-Hogg-Dube associated kidney cancer

(Japanese)

Masahiro Yao

(P-DIRECT)

Controlled-Access

(Type I)

hum0072.v1

Identification and functional analyses of susceptibility genes to narcolepsy and other sleep disorders

v1:2017/12/26

SNP-chip

Affymetrix

(SNP Array 6.0)

409 narcolepsy patients

1562 controls

(Japanese)

125 essential hypersomnia patients

562 controls

(Japanese)

Katsushi Tokunaga

Unrestricted-access

hum0074.v2

Genome-wide association studies on Hepatitis C virus-related diseases and construction of genome database

v1:2018/02/27

v2:2018/09/25

SNP-chip

Affymetrix

(SNP Array 6.0, Axiom ASI)

78 NVR, 64 VR, 51 SVR

107 patients with the decrease of PLT

196 patients without the decrease of PLT

94 HCV patients with an Hb reduction

209 HCV patients without Hb reduction

123 patients who developed HCC after eradication of HCV

333 patients who did not develop HCC after eradication of HCV

(Japanese)

Yasuhito Tanaka

Unrestricted-access

hum0075.v2

Search for susceptibility genes to hepatitis virus B-related diseases

v1:2017/09/25

v2:2019/02/19

SNP-chip

Affymetrix

(SNP Array 6.0, Axiom ASI)

181 HBV carriers

185 spontaneously HBV-resolved individuals

184 controls

473 HBV-positive HCC patients

516 HBV carriers (chronic hepatitis and asymptomatic carriers)

(Japanese)

Masashi Mizokami

Unrestricted-access

hum0076.v1

Genome-wide search for susceptibility genes to primary biliary chirrosis

v1:2016/10/05

SNP-chip

Affymetrix

(Axiom ASI)

487 PBCs

476 controls

(Japanese)

Minoru Nakamura

Unrestricted-access

hum0082.v2

JGAS000120

Genome-wide analysis of SNPs in Healthy Japanese

v1:2017/09/26

v1:2017/10/03

SNP-chip

Control Set

Affymetrix

(SNP Array 6.0, Axiom ASI)

419 Participants

(Japanese)

Katsushi Tokunaga

Unrestricted-access

Controlled-Access

(Type I)

hum0083.v1

JGAS000070

Genome-wide analysis for biomarker exploration (lung cancer)

v1:2016/10/28

NGS (CAGE-seq)

Illumina

(HiSeq 2500)

97 lung cancer tissues

(Japanese)

Yoshihide Hayashizaki

Controlled-Access

(Type I)

hum0085.v2

JGAS000108

Molecular biological research affecting on long-term treatment to malignant tumors derived from the chest or abdomen

Genomic analysis of environment-associated tumors

v1:2017/10/16

v1:2018/09/25

Array CGH, NGS (WGS, Target Capture, Exome)

Illumina

(MiSeq, HiSeq 4000/X Ten)

72 malignant mesotheliomas

(Japanese, Americans)

Masaki Ohmuraya

Controlled-Access

(Type I)

hum0086.v3

JGAS000073
(JGA000074)

JGAS000107
(JGA000117)

Epigenomic analysis of the human placenta and endometrium constituting the fetal-maternal interface

v1:2017/09/25

v2:2017/12/26

v3:2018/06/26

NGS

(WGBS

ChIP-seq

RNA-seq

small RNA-seq)

Illumina

(HiSeq 1500/2500)

placenta and uterus cells, trophoblast stem cells: total 39 samples

(Japanese)

Hiroyuki Sasaki

(IHEC)

Controlled-Access

(Type I)

hum0088.v2

JGAS000077

JGAS000096

Global analysis of TGF-beta family signaling in cancer cells

v1:2019/02/08

v2:2019/09/10

NGS

(RNA-seq, WGS)

Illumina

(Genome Analyzer IIx)

Thermo Fisher Scientific

(Ion Proton)

2 glioblastomas

(Japanese)

Kohei Miyazono

Controlled-Access

(Type I)

hum0090.v1

JGAS000078

JGAS000079

JGAS000080

Study of molecular-genetics, and molecular epidemiology for developing treatment of esophageal cancer

(COC series)

v1:2016/11/18

NGS

(WGBS

ChIP-seq

RNA-seq)

Illumina

(HiSeq 2000/2500)

12 normal human absorptive epithelial cells

(Japanese)

Yae Kanai

(IHEC)

Controlled-Access

(Type I)

hum0091.v1

JGAS000082

JGAS000165

JGAS000081

Study of molecular-genetics, and molecular epidemiology for developing treatment of esophageal cancer

(GAC series)

v1:2021/03/12

NGS

(WGBS

ChIP-seq

RNA-seq)

Illumina

(HiSeq 2000/2500)

14 Normal human foveolar epithelial cells of the stomach

(Japanese)

Yae Kanai

(IHEC)

Controlled-Access

(Type I)

hum0094.v6

JGAS000095

JGAS000105

JGAS000113

JGAS000128

JGAS000215

JGAS000270

Genomic and epigenomic analysis of different types of cancer

v1:2017/09/04

v2:2018/01/22

v3:2019/02/12

v4:2020/08/14

v5:2020/10/26

v6:2021/01/29

NGS

(WGS, Exome, RNA-seq), Methylation array, SNP-chip

Illumina

(HiSeq 2000/2500, Infinium Human MethylationEPIC BeadChip, HumanOmni2.5-8 BeadChip)

68 breast cancer patients

43 + 126 lung adenocarcinoma patients

150 colorectal cancers

12 colorectal cancers with liver metastasis, 16 colorectal cancers without liver metastasis

64 desmoid tumor patients

(Japanese)

Hiroyuki Mano

Controlled-Access

(Type I)

hum0095.v1

JGAS000092

Genetic analysis of colorectal precancerous lesion and early colorectal cancer to investigate mechanism of carcinogenesis of colorectal cancer

v1:2018/07/30

NGS

(Exome)

Illumina

(HiSeq 2500)

10 cases of colorectal adenomas or PCRCs

(Japanese)

Koshi Mimori

Controlled-Access

(Type I)

hum0096.v2

JGAS000090

JGAS000138

Comprehensive analysis of genetic alterations in hematological malignancies

v1:2017/05/25

v2:2019/11/18

NGS

(RNA-seq)

Methylation array

Illumina

(HiSeq 2500, Infinium MethylationEPIC)

123 pediatric T-ALL patients

(Japanese)

Junko Takita

Controlled-Access

(Type I)

hum0097.v1

JGAS000094

Cytogenetic analysis of hematopoietic cells in bone marrow failure syndrome

v1:2018/05/25

NGS

(Exome)

Illumina

(HiSeq 2500)

5 patients with aplastic anemia with uniparental disomy in 6p

(Japanese)

Shinji Nakao

(Genome Science)

Controlled-Access

(Type I)

hum0099.v1

JGAS000085

Expression quantitative trait loci analysis using human immune cells

v1:2017/04/24

NGS

(RNA-seq)

SNP-chip

Illumina

(HiSeq 2500, Infinium OmniExpressExome BeadChips)

105 healthy volunteers

(Japanese)

Kazuhiko Yamamoto

Unrestricted-access

Controlled-Access

(Type I)

hum0101.v1

JGAS000098

Identification of gene mutations in primary immunodeficiency characterized by EBV-associated B-cell lymphoma

v1:2018/05/11

NGS

(Target Capture)

Illumina

(MiSeq)

2 patients with primary immunodeficiency

(Japanese)

Yasumasa Iwatani

Controlled-Access

(Type I)

hum0103.v2

JGAS000109

Genome sequencing analysis for biliary tract cancer

v1:2018/02/27

v2:2019/06/21

NGS

(WGS, Exome)

Illumina

(HiSeq 2000/2500, NovaSeq 6000)

98 biliary tract cancers

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0107.v2

JGAS000099

JGAS000218

Establish induced pluripotent stem (iPS) cells from patients with Gorlin syndrome and elucidate the pathology

v1:2017/10/02

v2:2020/06/01

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/4000)

4 patients with Gorlin syndrome

(Japanese)

Toshifumi Azuma

Controlled-Access

(Type I)

hum0108.v1

JGAS000111

Search for new susceptibility genetic factors associated with psychiatric disorders

v1:2017/06/26

Methylation array

Illumina

(Infinium HumanMethylation450)

48 panic disorder patients

48 healthy controls

(Japanese)

Katsushi Tokunaga

Controlled-Access

(Type I)

hum0111.v3

JGAS000103

JGAS000141

JGAS000242

Analysis of gastric cancer genome and its clinicopathological significance

v1:2017/07/31

v2:2019/05/31

v3:2021/02/19

NGS

(RNA-seq,

Amplicon-seq)

Illumina

(HiSeq 2000, MiSeq)

30 diffuse-type gastric carcinomas

60 + 15 gastric carcinomas

(Japanese)

Shumpei Ishikawa

Controlled-Access

(Type I)

hum0112.v1

JGAS000112

(JGA000122)

Basic research for the establishment and characterization of human trophoblast stem cells

v1:2017/12/14

NGS

(WGBS

ChIP-seq

RNA-seq

miRNA-seq)

Illumina

(HiSeq 1500/2500)

2 trophoblast stem cells

(Japanese)

Takahiro Arima

Controlled-Access

(Type I)

hum0113.v1

JGAS000119

Development of metabolite biomarkers of Parkinson’s disease and identification of drug seeds from chemical screening based on the biomarkers

v1:2020/04/24

NGS

(CAGE-seq)

Illumina

(HiSeq 2500)

39 PD patients, 20 non-PD (healthy) contorols

(Japanese)

Piero Carninci

Controlled-Access

(Type I)

hum0114.v2

DRA007411

Research on statistical genetics using B cell lines of Japanese ancestry

v1:2017/12/18

v2:2019/04/12

SNP-chip

NGS

(Target Capture)

Illumina

(HumanCoreExome BeadChip, MiSeq)

282 psoriasis patients

426 controls

560 samples

(Japanese)

Yukinori Okada

Unrestricted-access

hum0115.v1

JGAS000121

DRA006296

Controlling cell differentiation with precision through understanding the structure and dynamics of gene regulatory networks

v1:2020/05/15

NGS

(RNA-seq)

Microarray

Illumina

(HiSeq 2000/2500)

Agilent Technologies

(SurePrint G3 Human GE v2 8x60K Microarray, SureScan G4900DA)

TF-hESCs derived from SEES3

(Cell-line)

Minoru S.H. Ko

Controlled-Access

(Type I)

Unrestricted-access

hum0116.v1

JGAS000122

Development of hunanized mice for human immunity research

v1:2020/11/20

NGS

(Target Capture)

Illumina

(HiSeq 1500/2500)

118 AMLs

(Japanese)

Fumihiko Ishikawa

Controlled-Access

(Type I)

hum0117.v1

JGAS000125

Epigenetics analysis of neurodegenerative diseases

v1:2017/12/11

Methylation array

Illumina

(Human Methylation 450K BeadChip)

30 Alzheimer's disease patients

30 healty controls

(Japanese)

Atsushi Iwata

Controlled-Access

(Type I)

hum0118.v1

JGAS000124

Genome-wide analysis for biomarker exploration (endometrial cancer)

v1:2017/12/11

NGS (CAGE-seq)

Sanger-seq

Illumina

(HiSeq 2500)

Thermo Fisher Scientific (ABI) 3500 Genetic Analyzer

17 endometrial cancer patients

(Japanese)

Yoshihide Hayashizaki

Controlled-Access

(Type I)

hum0119.v1

JGAS000126

Analysis for mechanism of onset and progress for NASH

v1:2019/01/31

SNP-chip

Illumina

(Human610-Quad BeadChip, HumanCoreExome BeadChip, HumanOmni2.5-Quad BeadChip)

902 NAFLDs

7672 healty controls

(Japanese)

Fumihiko Matsuda

Controlled-Access

(Type I)

hum0120.v2

JGAS000221

DRA011183

DRA011184

DRA011185

The genetic analysis of circulating tumor DNA in blood of the digestive cancer patients to investigate the prognostic factors of metastasis and reccurence.

v1:2020/04/03

v2:2020/10/30

NGS

(Exome, RNA-seq, Target Capture)

Illumina

(HiSeq 2500)

10 colorectal cancers

(Japanese)

Koshi Mimori

Controlled-Access

(Type I)

Unrestricted-access

hum0122.v1

DRA006622

DRA007336

DRA008459

E-GEAD-311

Mutation analysis of iPS cells derived from commercially-avaialble human primary cells

v1:2020/01/14

NGS

(WGS)

SNP-chip

Illumina

(HiSeq X Ten, Infinium Omni2.5-8 v1.4 BeadChip)

human iPS cells and their parental cells: total 27 samples

(Cell-line)

Ryoko Araki

Unrestricted-access

hum0124.v1

JGAS000129

Study for exome sequencing in familial epidermal growth factor receptor-mutant lung cancer

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

3 EGFR-mutant lung cancers

(Japanese)

Toshiaki Kikuchi

(P-DIRECT)

Controlled-Access

(Type I)

hum0125.v1

JGAS000127

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2018/11/05

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

3 Crohn's diseases

4 Colorectal cancers (normal cells)

(Japanese)

Shimon Sakaguchi

Controlled-Access

(Type I)

hum0126.v2

Identification of the disease and drug susceptibility genes for the Childhood Idiopathic Nephrotic Syndrome

v1:2018/04/27

v2:2020/09/01

SNP-chip

Affymetrix

(Japonica Array v1/v2)

224 + 3,206 Childhood Idiopathic Nephrotic Syndrome patients

419 + 987 healthy controls

(Japanese)

Kazumoto Iijima

Unrestricted-access

hum0127.v2

JGAS000130

JGAS000274

Implementation of individualized medicine for cancer patients by multiomics-based analyses—the Project HOPE (High-tech Omics-based Patients Evaluation) for Cancer Therapy—

v1:2020/04/14

v2:2021/03/08

NGS

(Exome, DNA Amplicon-seq, RNA Amplicon-seq)

Microarray

Thermo Fisher Scientific

(Ion Proton)

Agilent Technologies

(SurePrint G3 Human Gene Expression 8 × 60 K v2 Microarray, DNA Microarray Scanner)

91 cancer patients with hypermutator tumors harborig POLE mutations

5143 cancer patients (5433 samples)

(Japanese)

Ken Yamaguchi

Controlled-Access

(Type I)

hum0128.v1

JGAS000153

A study on comprehensive genome and proteome analyses of the chronic eosinophillic inflammatory diseases.

v1:2018/10/29

NGS

(RNA-seq)

Illumina

(HiSeq 2000)

6 chronic rhinosinusitis with nasal polyps

(Japanese)

Shigeharu Fujieda

Controlled-Access

(Type I)

hum0129.v1

JGAS000131

Research for analyzing mechanistic insight into disease progression of neural disease based on iPS cell technology

v1:2018/04/06

NGS

(ChIP-seq)

Illumina

(HiSeq 2500)

2 CHARGE syndrome patients

(Japanese)

Hideyuki Okano

Controlled-Access

(Type I)

hum0130.v1

JGAS000150

Comprehensive genetic analyses of bone marrow cells in POEMS syndrome

Analyses of molecular mechanisms of hematological malignancies and bone marrow niche

v1:2019/01/18

NGS

(Exome, Target Capture, RNA-seq)

Illumina

(HiSeq 1500/2500, MiSeq)

20 POEMS syndromes

4 MMs

5 MGUSs

(Japanese)

Emiko Sakaida

Controlled-Access

(Type I)

hum0131.v1

JGAS000132

The epigenetics of neurodevelopmental disorders

v1:2018/11/20

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion Proton)

6 Williams syndromes

8 healthy contorols

(Japanese)

Ryo Kimura

Controlled-Access

(Type I)

hum0132.v1

JGAS000137

Identification of genetic alterations in Vietnamese individuals with elevated blood dioxin level

v1:2018/09/07

NGS

(WGS)

Illumina

(HiSeq 2500)

9 trios of the father exposed to dioxin and his wife and child with mental retardation (total 27 individuals)

(Vietnamese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0133.v1

JGAS000086

Identification of genetic mutations characteristic for recurrence and metastasis of gastric cancer.

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

75 gastric cancers

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-Access

(Type I)

hum0134.v1

JGAS000087

Identification of genetic mutations characteristic for recurrence and metastasis of B cell lymphoma.

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

60 B cell lymphomas

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-Access

(Type I)

hum0136.v2

Construction of integrated clinical genome database regarding hepatitis B related diseases

v1:2018/05/22

v2:2021/03/05

SNP-chip

Affymetrix

(Axiom ASI)

1,193 individuals vaccinated with a HB vaccine (Bimmugen)

555 individuals vaccinated with a HB vaccine (Heptavax)

(Japanese)

Masashi Mizokami

Unrestricted-access

hum0137.v1

JGAS000144

a multicenter study of susceptibility genes to type 1 diabetes

v1:2018/12/21

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

32 type 1 diabetes patients

(Japanese)

Hiroshi Ikegami

Controlled-Access

(Type I)

hum0138.v2

JGAS000134

Clonal structure and oncogenic potential of liver cirrhosis tissues

v1:2020/07/31

v2:2021/03/26

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/4000)

Liver cirrhosis: 10 cases

Hepatocellular carcinoma: 4 cases

7 healthy donors

(Japanese)

Atsushi Takai

Controlled-Access

(Type I)

hum0139.v1

JGAS000136

Research for drug discovery and elucidation of pathophysiology using disease-specific iPS cells

v1:2018/07/10

NGS

(Exome)

Illumina

(HiSeq 1500)

1 RALD patient

(Japanese)

Makoto Otsu

Controlled-Access

(Type I)

hum0140.v1

JGAS000158

Prediction of response to preoperative chemoradiotherapy in rectal cancer based on whole-exome sequencing and transcriptomic analysis

v1:2019/11/19

NGS

(Exome)

Illumina

(HiSeq 2000)

74 rectal cancer treated with preoperative chemoraidotherapy

(Japanese)

Takashi Akiyoshi

Controlled-Access

(Type I)

hum0141.v1

JGAS000135

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2019/05/09

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

Head and neck cancer: 4 cases

(Japanese)

Shimon Sakaguchi

Controlled-Access

(Type I)

hum0144.v1

JGAS000147

Comprehensive analysis of genetic alterations in hematological malignancies (pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome)

v1:2020/01/10

NGS

(RNA-seq),

Methylation array,

SNP array

Illumina

(HiSeq 2000/2500, Infinium MethylationEPIC BeadChip, Infinium HumanMethylation450 BeadChip)

Affymetrix

(GeneChip Human Mapping 250K Nsp, CytoScan HD)

pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome: 43 cases

(Japanese)

Junko Takita

Controlled-Access

(Type I)

hum0145.v1

JGAS000222

The genetic analysis of circulating tumor DNA in blood of the digestive cancer patients to investigate the prognostic factors of metastasis and reccurence.

v1:2020/04/03

NGS

(Target Capture)

Illumina

(HiSeq 2500)

10 colorectal cancers

(Japanese)

Koshi Mimori

Controlled-Access

(Type I)

hum0146.v1

DRA007187

Diagnosis of imprinting disorders and safety evaluation of assisted reproduction technologies (ART)

v1:2019/02/19

NGS

(RRBS)

Illumina

(HiSeq 2500)

5 SRS patients born after ART

5 spontaneously conceived SRS patients

10 spontaneously conceived children

(Japanese)

Takahiro Arima

Un-restricted Access

hum0147.v1

JGAS000145

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2020/05/25

NGS

(RNA-seq, ChIP-seq, PBAT-seq, ATAC-seq)

Thermo Fisher Scientific

(Ion S5)

Illumina

(HiSeq 2500, NovaSeq 6000)

4 healty donors

(Japanese)

Shimon Sakaguchi

Controlled-Access

(Type I)

hum0148.v1

JGAS000149

Analysis of abnomal character and expression of genes in tissues of urologic carcinomas.

v1:2019/06/20

NGS

(RNA-seq)

Illumina

(Genome Analyzer IIx)

67 renal cell carcinomas

(Japanese)

Takeshi Yuasa

Controlled-Access

(Type I)

hum0152.v1

JGAS000182

Multi‐institutional study on molcular pathogenesis of bone and soft tissue tumors by genome and proteome analyses and its clinical application

v1:2019/09/20

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

Dedifferentiated liposarcoma: 37 cases

(Japanese)

Hitoshi Ichikawa

Controlled-Access

(Type I)

hum0153.v1

JGAS000177

Multiomics analysis of rare cancers to identify genetic alterations related with pathogenesis and prognosis

v1:2019/09/20

NGS

(Exome, RNA-seq, Target Capture)

Illumina

(HiSeq 2500, MiSeq)

28 Dedifferentiated liposarcoma patients

36 Tendon sheath giant cell tumor patient

(Japanese)

Koichi Matsuda

Controlled-Access

(Type I)

hum0157.v1

JGAS000164

Cancer clinical sequence and accompanying research for comprehensive genomic and epigenomic analyses

v1:2019/08/19

NGS

(Target Capture)

Illumina

(NextSeq)

183 cancer patients

(Japanese)

Kohei Miyazono

Controlled-Access

(Type I)

hum0158.v2

JGAS000151

Genome sequencing analysis for liver cancer

v1:2018/10/22

v2:2019/06/21

NGS

(WGS, RNA-seq)

Illumina

(HiSeq 2000, Genome Analyzer IIx, NovaSeq 6000)

263 liver cancers

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0159.v1

JGAS000157

Genome sequencing analysis for colorectal cancer

v1:2021/06/01

NGS

(WGS)

Illumina

(Hiseq 2000)

10 colorectal cancers

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0160.v1

JGAS000155

Genome sequencing analysis for esophageal squamous cell carcinoma

v1:2019/05/28

NGS

(WGS)

Illumina

(HiSeq 2000/2500/X Five)

20 esophageal squamous cell carcinomas

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0161.v1

JGAS000156

Genome sequencing analysis for hepatoblastoma

v1:2021/06/04

NGS

(WGS)

Illumina

(Hiseq 2500)

33 hepatoblastomas

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0163.v2

Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology

v1:2018/12/14

v2:2021/02/09

NGS

(Target Capture)

Illumina

(MiSeq)

990 patients with psychiatric/neurological disorders and cancers

(Japanese)

Taisei Mushiroda

Unrestricted-access

hum0164.v1

JGAS000160

Tohoku Medical Megabank Organization cohort study

v1:2018/12/14

SNP-chip

Illumina

(Infinium OmniExpressExome-8)

9,187 participants

(Japanese)

Masao Nagasaki

Controlled-Access

(Type I)

hum0165.v1

JGAS000162

Genetic analysis of familial myelodysplastic syndromes

v1:2019/05/07

NGS

(Exome)

Illumina

(HiSeq 2500)

2 patients of familial myelodysplastic syndromes

(Japanese)

Junji Koya

Controlled-Access

(Type I)

hum0166.v1

Multicenter Evaluation of NUDT15-R139C genotyping efficiency to DEtect thiopurine-induced hair Loss and leukopenia (MENDEL study)

v1:2019/07/30

SNP-chip

Affymetrix

(Japonica Array v1)

1221 patients of Inflammatory bowel disease

(Japanese)

Yoichi Kakuta

Unrestricted-access

hum0167.v1

Study to clarify the pathophysiology of gout / hyperuricemia and uric acid related diseases

v1:2019/07/23

SNP-chip

Illumina

(HumanOmniExpressExome-8, 660W-Quad, Omni2.5-8, OmniExpress-12, OmniExpress-24, HumanOmniExpressExome, HumanOmniExpress, HumanExome BeadChip)

121,745 participants of 3 Japanese cohorts (J-MICC study, KING study, BBJ)

(Japanese)

Hirotaka Matsuo

Unrestricted-access

hum0168.v1

JGAS000169

Comprehensive genomic analyses of cancers

v1:2019/11/08

NGS

(Exome)

Illumina

(HiSeq 2500)

51 adenomyosis patients

(Japanese)

Masahito Kawazu

Controlled-Access

(Type I)

hum0169.v2

JGAS000178

Molecular analysis to identify novel biomarker and therapeutic target for cerebrospinal tumor and preclinical investigation using patient derived orthotopic xenograft models.

v1:2019/06/01

v2:2020/07/17

NGS

(Exome)

Illumina

(HiSeq 2500)

9 PCNSL patinets

(Japanese)

Tetsuya Yamamoto

Controlled-Access

(Type I)

hum0173.v1

JGAS000171

A Study on the Health and Development of Children Beginning in the Fetal Period

v1:2019/04/23

NGS

(RRBS)

Illumina

(NextSeq)

human umbilical cords: 30 samples

(Japanese)

Chisato Mori

Controlled-Access

(Type I)

hum0174.v2

JGAS000173

Building a Database of Genomic Structural Variants in Japanese population

v1:2020/10/06

v2:2020/11/27

NGS

(WGS)

PacBio

(Sequel)

10x Genomics

(Chromium Controller)

Purified DNA from Japanese-origin B cell liens: 10 + 11 samples

Shinichi Morishita

Controlled-Access

(Type I)

hum0175.v1

JGAS000174

Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification in gynecological cancer based on whole-exome sequencing and epigenomic analysis

v1:2019/10/02

NGS

(Exome)

Illumina

(HiSeq 2000)

69 endometrial carcinomas

(Japanese)

Nobuhiro Takeshima

Controlled-Access

(Type I)

hum0176.v1

JGAS000172

Comprehensive sequencing analyses of uterine and ovarian carcinosarcoma

v1:2019/10/02

NGS

(Exome, Target Capture)

Illumina

(HiSeq 2000)

92 uterine carcinosarcomas

17 ovarian carcinosarcomas

(Japanese)

Seiichi Mori

Controlled-Access

(Type I)

hum0177.v1

JGAS000197

Genetic analysis assciated with malignance of brain tumor

v1:2020/04/27

NGS

(WGBS, RNA-seq, ChIP-seq)

Illumina

(HiSeq X Ten, NovaSeq 6000)

14 malignant gliomas

(Japanese)

Takashi Ito

Controlled-Access

(Type I)

hum0179.v1

JGAS000186

DRA009794

Shotgun metagenome analysis of oral microbiome in MRONJ and healthy individuals

v1:2020/04/03

Metagenome

Nanopore

(PromethION)

Illumina

(HiSeq)

4 healthy individuals

(Japanese)

Koji Yahara

(Genome Science)

Controlled-Access

(Type I)

Unrestricted-access

hum0180.v1

JGAS000170

Genetic study and evaluation of small molecule compounds for congenital diseases and metabolic disorders caused by an aberrant RNA splicing

v1:2021/03/12

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion Proton)

Familial Dysautonomia: 2 cases

Masahiko Ajiro

Controlled-Access

(Type I)

hum0181.v1

Aging of steroid production in the adrenal bland.

v1:2019/09/25

Immunohistochemistry

Dako

(Autostainer Link 48)

85 anatomical cases who were more than 50 years old

(Japanese)

Koshiro Nishimoto

Unrestricted-access

hum0182.v3

JGAS000180

DRA008482

Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing

v1:2019/06/20

v2:2020/05/12

v3:2021/01/06

NGS

(WGS)

Nanopore

(MinION)

Illumina

(HiSeq 2000, Genome Analyzer IIx)

liver cancer (normal cell): 174 case

liver cancer (tumor tissue): 11 cases

HapMap: 1 sample

(Japanese)

Akihiro Fujimoto

Controlled-Access

(Type I)

Unrestricted-access

hum0184.v1

JGAS000239

Construction of Japanese Whole-Genome database

v1:2020/09/01

NGS

(WGS)

Illumina

(HiSeq 2500, NovaSeq 6000)

4,566 general residents

(Japanese)

Masayuki Yamamoto

Controlled-Access

(Type II)

hum0187.v2

JGAS000194

JGAS000233

Genomic and genetic analysis of digestive tract cancer and elucidation of its clinicopathological significance.

v1:2020/05/12

v2:2021/05/31

NGS

(Target Capture, Exome, RNA-seq), Methylation array

Illumina

(MiSeq, HiSeq 2500, Infinium Human Methylation 450K BeadChip)

243 + 160 hepatocellular carcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-Access

(Type I)

hum0188.v1

JGAS000179

Exploration for molecular targets in gastric cancer cell lines

v1:2019/06/28

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

2 gastric cancer cell lines

(Cell-line)

Hiroyuki Mano

Controlled-Access

(Type I)

hum0191.v1

DRA008575

Development of personalized cancer vaccine targeting individual somatic mutations combined with immunoregulation of tumor microenvironment

v1:2020/06/05

NGS

(RNA-seq)

Illumina

(HiSeq 1500/4000)

Pancreatic cancer: 17 cases

(Japanese)

Kazuhiro Kakimi

Unrestricted-access

hum0192.v1

JGAS000196

A study to verify the usefulness of cell free DNA as a prognostic biomarker after radiation / proton therapy for oligometastasis in colorectal cancer patients

v1:2021/04/23

NGS

(Target Capture)

Illumina

(NovaSeq 6000)

Colon cancer: 20 cases

(Japanese)

Masaki Nakamura

Controlled-Access

(Type I)

hum0194.v1

JGAS000189

Molecular mechanisms of drug resistance in cancer

v1:2020/05/11

NGS

(Target Capture)

Illumina

(MiSeq)

2 lung adenocarcinomas

(Japanese)

Ryohei Katayama

Controlled-Access

(Type I)

hum0195.v1

JGAS000190

JGAS000234

Comprehensive genetic analysis of gastrointestinal and hepatobiliary tumor

v1:2021/03/26

NGS

(WGS, Exome, RNA-seq)

Illumina

(HiSeq 4000, NovaSeq 6000)

Thermo Fisher Scientific

(Ion Proton)

5 nodule-in-nodule hepatocellular carcinomas

20 liver cirrhosis and hepatocellular carcinomas after hepatitis C virus eradication

3 hepatitis C virus positive cirrhosis and hepatocellular carcinomas

2 hepatitis C virus negative hepatocellular carcinomas

(Japanese)

Atsushi Takai

Controlled-Access

(Type I)

hum0196.v1

Identification of biomarker for suicide prevention using blood and brain samples of completed suicide

v1:2019/12/20

SNP-chip

Illumina

(HumanOmniExpress-24 BeadChip, HumanOmniExpressExome-8 BeadChip)

Suicide: 746 cases

Non-suicide: 14,049 cases

(Japanese)

Akitoyo Hishimoto

Unrestricted-access

hum0197.v3

JGAS000205

JGAS000260

Elucidation of disease state by multi-layered omics analysis

v1:2019/11/15

v2:2020/11/27

v3:2021/03/22

Metagenome

SNP-chip

Illumina

(HiSeq 3000, Infinium Asian Screening Array, HumanOmniExpressExome BeadChip, HumanOmniExpress BeadChip, HumanExome BeadChip)

Applied Biosystems

(UK BiLEVE Axiom Array, UK Biobank Axiom Array)

Thermo Fisher Scientific

(FinnGen1 ThermoFisher Array or other genotyping arrays)

95 + 103 + 179,000 individuals

Autoimmune pulmonary alveolar proteinosis: 198 cases

395 Control participants

UK biobank: 361,000

FinnGen: 136,000

(Japanese, British, Finnish)

Yukinori Okada

Controlled-Access

(Type I)

Unrestricted-access

hum0199.v1

JGAS000198

Identification of therapeutic target molecules in urological malignancies by using next generation sequencer

v1:2020/06/29

NGS

(RNA-seq)

Illumina

(HiSeq 2500)

Prostate cancer: 25 cases

(Japanese)

Tetsuya Fujimura

Controlled-Access

(Type I)

hum0200.v2

JGAS000202

JGAS000265

Analysis of somatic mutations and gene expression abnormalities involved in mammary tumor phenotype

v1:2021/03/29

v2:2021/05/07

NGS

(Exome, WGS)

CNV

Methylation analysis

Illumina

(HiSeq 3000, NovaSeq 6000)

10x Genomics

(Chromium Controller)

Nanopore

(PromethION)

24 + 3 Ductal Carcinoma In Situ

(Japanese)

Satoi Nagasawa

(Genome Science)

Controlled-Access

(Type I)

hum0201.v3

JGAS000199

JGAS000237

JGAS000256

Collection and transfer of human tumor samples and research using genomic information

Transfer of existing samples and research using genomic information

Reseach of searching gene mutations in gastrointestinal chronic inflammatory diseases

v1:2019/12/20

v2:2020/10/06

v3:2020/11/20

NGS

(Exome, WGS, RNA-seq)

Illumina

(HiSeq 2500/4000/X Ten, NovaSeq 6000)

gastrointestinal inflammatory disease: 29 cases

gastrointestinal inflammatory disease with neoplastic disease: 26 cases

control patients who underwent colonoscopy: 16 individuals

neoplastic disease: 23 + 1 cases

(Japanese)

Toshiro Sato

Controlled-Access

(Type I)

hum0203.v1

JGAS000206

Establishment of an integrated database for clinical and genomic data in cancer

v1:2020/06/01

NGS

(Target Capture)

Illumina

(HiSeq 2500)

154 patients with multiple myeloma

(Japanese)

Keizo Horibe

Controlled-Access

(Type I)

hum0206.v1

JGAS000207

Establishment and characterization of cell lines derived from pregnancy related diseases

v1:2019/11/26

NGS

(WGBS, RNA-seq)

Illumina

(HiSeq 1500/2500)

complete hydatidiform mole: 3 cases

(Japanese)

Takahiro Arima

Controlled-Access

(Type I)

hum0207.v1

Analysis of gene polymorphism and gene expression in human immune cells

v1:2020/01/06

NGS

(RNA-seq, ChIP-seq, Hi-C)

eQTL

Illumina

(HiSeq 2500, HiSeq series, Infinium OmniExpressExome BeadChips)

rheumatoid arthritis: 30 cases

osteoarthritis: 30 cases

(Japanese)

Keishi Fujio

Unrestricted-access

hum0208.v1

JGAS000214

Comprehensive genetic analysis and database construction for head and neck cancer

v1:2020/01/20

NGS

(Exome)

Illumina

(HiSeq X Ten)

10 patients with cancer of the external auditory canal

(Japanese)

Takashi Nakagawa

Controlled-Access

(Type I)

hum0209.v1

Genetic and clinical prediction models for the efficacy and hepatotoxicity of methotrexate in patients with rheumatoid arthritis: a multicenter cohort study

v1:2019/12/13

SNP-chip

Direct sequencing

Thermo Fisher Scientific

(GeneChip® Scanner 3000 7G)

Applied Biosystems

(Veriti 96-Well Thermal Cycler and 3730XL DNA Analyzer)

Rheumatoid arthritis: 166 cases

(Japanese)

Shunichi Kumagai

Unrestricted-access

hum0210.v1

JGAS000211

Comprehensive genomic analysis of hematological malignancies

v1:2020/04/06

NGS

(Exome)

Illumina

(NextSeq 500)

1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor

(Japanese)

Kazuya Shimoda

Controlled-Access

(Type I)

hum0214.v3

JGAS000220

E-GEAD-397

E-GEAD-398

E-GEAD-420

Integrative understanding of human immune system by functional genomics and development of intervention strategies for the prevention of autoimmune diseases

v1:2020/10/09

v2:2021/03/05

v3:2021/04/28

NGS

(RNA-seq)

Illumina

(HiSeq 2500)

eQTL

10 Immune-mediated diseases: 339 cases

92 normal controls

(Japanese)

Keishi Fujio

Controlled-Access

(Type I)

hum0216.v4

JGAS000216

JGAS000244

JGAS000279

Analyses of immune status of patients with solid tumors including gastrointestinal cancer

Investigation of anti-tumor immunological response in solid tumors

v1:2020/02/07

v2:2020/09/25

v3:2021/03/29

v4:2021/04/13

NGS

(Exome)

Illumina

(HiSeq 2500, NovaSeq 6000)

17 patients with lung adenocarcinoma

26 + 23 patients with gastric cancer

9 patients with lung cancer

5 patients with malignant melanoma

7 patients with cololectal cancer

(Japanese)

Hiroyoshi Nishikawa

Controlled-Access

(Type I)

hum0217.v1

JGAS000217

Identification of genetic alterations predicting cancer progression from colorectal polyps

v1:2020/03/02

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Torrent)

50 colorectal serrated lesions

(Japanese)

Takeshi Sawada

Controlled-Access

(Type I)

hum0218.v1

E-GEAD-344

Gene expression analysis in systemic sclerosis

v1:2020/10/09

NGS

(scRNA-seq)

Illumina

(HiSeq)

Systemic sclerosis: 3 cases

(Japanese)

Keishi Fujio

Unrestricted-access

hum0220.v1

JGAS000223

A study of influence of storage condition after blood collection on the plasma/serum comcentrations of compounds

v1:2020/06/02

LC-MS/MS

Sciex

(TripleTOF 5600)

3 heathy individuals

(Japanese)

Sumio Ohtsuki

(AMED-Metabolites)

Controlled-Access

(Type I)

hum0222.v1

JGAS000224

Identification of responsible genes and development of standardized medicine for familial breast cancer by genetic analysis with NGS technology

v1:2020/03/13

NGS

(Target Capture)

Illumina

(HiSeq 2000)

115 breast cancer patients

(Japanese)

Shinji Ohno

Controlled-Access

(Type I)

hum0223.v1

JGAS000232

The analyses of gene mutations in hematology malignancy

v1:2020/09/01

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

7 patients with multiple myeloma

(Japanese)

Yasuhito Terui

Controlled-Access

(Type I)

hum0225.v1

JGAS000226

Mortality and risk of progression to adult T-cell leukemia/lymphoma in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis

v1:2020/05/08

NGS

(Target Capture)

Illumina

(HiSeq 2500/3000)

HAM: 21 cases

(Japanese)

Makoto Yamagishi

Controlled-Access

(Type I)

hum0226.v1

JGAS000229

Genomic and genetic analysis of upper gastrointestinal tumors and elucidation of its clinicopathological significance.

v1:2021/06/04

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

141 stomach adenocarcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-Access

(Type I)

hum0227.v1

JGAS000228

Genomic and genetic analysis of gastric tumors and elucidation of its clinicopathological significance.

v1:2021/06/04

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

102 stomach adenocarcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-Access

(Type I)

hum0229.v1

JGAS000230

Identification and characterization of molecular markers in aging and neuronal disorders

v1:2020/05/15

NGS

(scRNA-seq)

Illumina

(HiSeq 2500)

7 supercentenarians

2 family members

2 unrelated donors

(Japanese)

Piero Carninci

Controlled-Access

(Type I)

hum0232.v1

JGAS000231

Evaluation of metastasis and recurrence by monitoring circulating tumor DNA of gastric cancer

v1:2020/06/01

NGS

(Target Capture)

Illumina

(HiSeq 2000)

10 gastric cancer patients

(Japanese)

Satsoshi Nishizuka

Controlled-Access

(Type I)

hum0233.v1

JGAS000236

Paediatric Hepatic International Tumour Trial (JPLT4: PHITT)

v1:2021/05/31

NGS

(Exome, RNA-seq, WGBS)

SNP array

Methylation array

Illumina

(HiSeq 2500, Infinium Human Methylation 450K BeadChip)

Affymetrix

(SNP Array 6.0)

165 pediatric hepatoblastomas

(Japanese)

Eiso Hiyama

Controlled-Access

(Type I)

hum0235.v1

JGAS000272

Evaluation and imaging study of the preclinical stage of Alzheimer's disease in Japan

v1:2021/04/06

Neuroimage

Clinical Info

MRI Scanners (9 Models)

PET Scanners (11 Models)

25 healthly controls

3 preclinical AD

7 early MCI

5 late MCI

(Japanese)

Hiroyuki Shimada

Controlled-Access

(Type I)

Unrestricted-access

hum0236.v1

JGAS000245

Development of tumor infiltrating lymphocytes therapy targeting gene mutation of lung cancer

v1:2020/12/14

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

Nanopore

(MinION)

7 non-small cell lung cancer patients

(Japanese)

Tetsuya Nakatsura

Controlled-Access

(Type I)

hum0237.v1

Whole genome and RNA analysis of geriatric disease in Japanese

v1:2021/03/05

SNP-chip

Affymetrix

(Japonica Array, GeneChip 6.0 microarrays)

Alzheimer's disease: 3,962 cases

4,074 controls

(Japanese)

Kouichi Ozaki

Unrestricted-access

hum0238.v1

JGAS000240

Development of personalized medicine

v1:2020/07/28

NGS

(WGS)

Illumina

(HiSeq 2500)

3 participants of BBJ

(Japanese)

Yukihide Momozawa

Controlled-Access

(Type I)

hum0239.v1

JGAS000241

Genomic and Proteomic comprehensive analysis related to cancer, infectious diseases, intractable diseases and lifestyle-related diseases

v1:2020/07/27

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

19 patients with urothelial bladder cancer

(Japanese)

Yosuke Hirotsu

Controlled-Access

(Type I)

hum0240.v1

JGAS000258

Whole genome sequence analysis in patients with primary central nervous system lymphomas

v1:2020/10/30

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Torrent)

28 PCNSL patinets

(Japanese)

Ryuya Yamanaka

Controlled-Access

(Type I)

hum0242.v1

JGAS000243

Frequent post-treatment monitoring of colorectal cancer using individualized ctDNA validated by multi-regional molecular profiling

v1:2021/01/05

NGS

(Target Capture)

Illumina

(HiSeq 2000)

12 colorectal cancer patients

(Japanese)

Satsoshi Nishizuka

Controlled-Access

(Type I)

hum0243.v1

JGAS000253

Development of humanized mice for human immunity research/Construction of disease and treatment model using iPS cells derived from human hematopoitec cells.

v1:2020/11/20

NGS

(RNA-seq, CAGE-seq)

Illumina

(HiSeq 2500)

Cord blood: 24 individuals

Acute Myeloid Leukemia: 116 cases

(Japanese)

Fumihiko Ishikawa

Controlled-Access

(Type I)

hum0247.v1

JGAS000249

DRA010773

Research for gene mutations in cancer representing immune status of the patients

v1:2021/01/04

NGS

(Exome)

Illumina

(HiSeq 1500)

3 malignant melanoma patients

(Japanese)

Takashi Iwata

Controlled-Access

(Type I)

Unrestricted-access

hum0248.v2

JGAS000259

Establishment of a Japanese reference genome sequence by high-precision long-read sequencing

v1:2020/10/30

v2:2020/11/06

NGS

(WGS)

PacBio (RS II)

Bionano (Irys, Saphyr)

Illumina (HiSeq 2500)

3 Japanese male individuals

(Japanese)

Masayuki Yamamoto

Unrestricted-access

Controlled-Access

(Type II)

hum0249.v1

JGAS000248

Elucidation of pathological conditions and development of therapeutic methods using iPS cells derived from patients with hard tissue/connective tissue related diseases

v1:2020/09/01

NGS

(CAGE-seq)

Illumina

(NextSeq 500)

3 patients with hard tissue/connective tissue related diseases

(Japanese)

Toshifumi Azuma

Controlled-Access

(Type I)

hum0250.v1

JGAS000277

Brain Mapping by Integrated Neurotechnologies for Disease Studies: Human Brain Aging Imaging Study

v1:2021/03/29

Neuroimage

Clinical Info

MRI Scanners (1 Model)

PET Scanners (1 Model)

11 MCI

28 healthly controls

(Japanese)

Takeshi Iwatsubo

Controlled-Access

(Type I)

hum0261.v2

Genome-wide association study of primary biliary cholangitis (PBC) －an additional study of 1,000 Japanese PBC patients－

v1:2021/01/08

v2:2021/01/19

SNP-chip

Affymetrix

(Axiom Genome-Wide ASI 1 Array, Japonica Array v1)

1,953 PBCs and 3,690 healthy controls

(Japanese)

Minoru Nakamura

Unrestricted-access

hum0262.v1

JGAS000267

Identification of biomarkers for prediction of efficacy of microtubule inhibitors and antifolates in non-small cell lung cancer

v1:2021/05/11

NGS

(RNA-seq)

Illumina

(HiSeq 1500/2500)

Lung Adenocarcinoma: 24 cases

(Japanese)

Katsuya Tsuchihara

Controlled-Access

(Type I)

hum0268.v1

JGAS000280

Direct and comprehensive identification of neoantigens using cancer tissues

v1:2021/04/09

NGS

(Iso-seq, CAGE-seq, RNA-seq)

Illumina

(NextSeq 500, NovaSeq 6000)

PacBio

(Sequel)

Human colon cancer cell line: 1 sample

(Cell-line)

Colon cancer: 6 patients

(Japanese)

Takayuki Kanaseki

Controlled-Access

(Type I)

hum0269.v1

JGAS000295

Sensitive gene analysis of hereditary cardiovascular disease

v1:2021/05/25

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/3000)

hereditary cardiovascular disease: 13 cases

(Japanese)

Yoshihiro Asano

Controlled-Access

(Type I)

hum0271.v1

JGAS000288

Comprehensive genome analysis related to individual differences in phenotypic expression in autosomal dominant diseases caused by haploinsufficiency

v1:2021/05/11

NGS

(Target Capture, Target RNA-seq)

Illumina

(Miseq)

20 patients with neurofibromatosis type 1

(Japanese)

Yo Niida

Controlled-Access

(Type I)

# You can search the data in the European Sequence Read Archive (ERA) and the Sequence Read Archive (SRA) through the DDBJ Sequence Read Archive (DRA) site.

# You can also search the data in SRA through the Database Center for Life Science (DBCLS) SRA web site.

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