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Research ID	Study Title	Release Date	Type of Study	Platform	Participants/Materials (Ethnicity)	Data Provider	Type of Data
hum0001.v1 JGAS00000000002	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 JGAS00000000001	Molecular Epidemiological Study of Somatic Mutation Profiles of EGFR Mutation Positive Lung Adenocarcinoma	v1:2014/07/11	NGS (Exome)	Illumina (GAIIx)	97 Patients (Japanese)	Koichi Goto	Controlled-Access (Type I)
hum0005.v5 DRA001273 JGAS00000000032 DRA003791 JGAS00000000093 JGAS00000000123 JGAS00000000166	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 JGAS00000000004 JGAS00000000106 JGAS00000000146	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 JGAS00000000005	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 JGAS00000000007	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 JGAS00000000008	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 JGAS00000000015	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 JGAS00000000012	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.v18 JGAS00000000101 JGAS00000000114 JGAS00000000140 JGAS00000000203	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	SNP-chip Case-Control NGS (WGS, Target Capture)	Illumina (Human610-Quad, HumanHap550v3, HumanOmniExpress-12, HumanExome, OmniExpressExome, HiSeq2500) Perlegen Sciences (high-density oligonucleotide arrays) Hologic Japan (Invader)	1666 MIs and 3198 ctrls 934 ctrls (JSNP) 35 diseases (JSNP) 182 esophageal cancers (JSNP) 92 ALSs (JSNP) 9817 T2DMs and 6763 ctrls 5646 T2DMs and 19,420 ctrls 1472 ADs and 7966 ctrls 8180 AFs and 28,612 ctrls 158,284 individuals for BMI study 182,505 individuals' genotype data 3980 POAGs and 18,815 ctrls 162,255 individuals for 58 quantitative traits study 67,029 females with information on age at menarche 43,861 females with information on age at menopause 1,026 individuals for WGS 7,104 breast cancer patients and 23,731 controls 2,809 T2DM with diabetic nephropathy patients and 5,592 T2DM ctrls 36,614 T2DMs and 155,150 ctrls 165,436 Japanese individuals with information on smoking behaviour 1,026 individuals from biobank Japan and 2,504 individuals from 1KGP p3v5 ALL 159,095 individuals for height study 7,636 prostate cancer patients and 12,366 ctrls 212,453 individuals for 41 diseases (Japanese)	Michiaki Kubo	Un-restricted Access Controlled-Access (Type I)
hum0015.v3 JGAS00000000159	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 JGAS00000000021	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 JGAS00000000009	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 JGAS00000000011	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 JGAS00000000013	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.v1 JGAS00000000014	Genetic Analysis in Psychiatric Disorders	v1:2015/01/08	NGS (Exome)	Illumina (HiSeq 2000)	Healthy Monozygotic Twins 3 Pairs [6 Participants] (Japanese)	Tadafumi Kato (Genome Science)	Controlled-Access (Type I)
hum0022.v1 JGAS00000000017	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 JGAS00000000016	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 JGAS00000000023	Comprehensive Analysis of Genetic Alterations in Hematological Malignancies	v1:2015/04/16	NGS (Exome)	Illumina (GAIIx, Hiseq 2000/2500)	13 MDSs and 1 CMML (Japanese)	Seishi Ogawa (P-DIRECT)	Controlled-Access (Type I)
hum0027.v1 JGAS00000000024 JGAS00000000040	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 JGAS00000000018	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.v1	Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome	v1:2016/03/09	SNP-chip Case-Control	Affymetrix (Axiom ASI)	117 SJSs and 691 controls (Japanese)	Mayumi Ueta (Genome Science)	Un-restricted Access
hum0030.v1 JGAS00000000022	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 JGAS00000000042 JGAS00000000043 JGAS00000000044 JGAS00000000045	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 JGAS00000000026 JGAS00000000027 JGAS00000000028	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 (GAIIx)	1 Participant (3 Samples) (Japanese)	Ryohei Yanoshita	Un-restricted Access
hum0034.v1 JGAS00000000037	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.v2 JGAS00000000036 JGAS00000000046 JGAS00000000088	Genome wide analysis of gene mutations in solid tumors	v1:2015/09/16 v2:2017/12/26	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 (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 JGAS00000000035	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 JGAS00000000041	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 JGAS00000000039	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 JGAS00000000038	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 JGAS00000000052	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 JGAS00000000051	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) (Japanese)	Yorifumi Satou	Un-restricted Access
hum0045.v1 JGAS00000000047	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 JGAS00000000053	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.v1 JGAS00000000062	Identification of new molecular targets with profiling of malignant mesothelioma	v1:2016/07/20	NGS (Exome)	Illumina (HiSeq 2000/2500)	38 malignant mesothelioma (Japanese)	Takashi Nakano (P-DIRECT)	Controlled-Access (Type I)
hum0055.v1 JGAS00000000059	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 JGAS00000000091	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 JGAS00000000104	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 JGAS00000000075	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 JGAS00000000057	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 JGAS00000000061	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 JGAS00000000089	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)
hum0067.v1 JGAS00000000076	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.v1 JGAS00000000065	Cancer genomics for elucidation of molecular mechanisms of carcinogenecis and progression in lung cancer	v1:2017/07/10	NGS (PCR amplicon Seq)	Nanopore (MinION)	8 lung adenocarcinoma patients (Japanese)	Takashi Kono	Controlled-Access (Type I)
hum0069.v1 JGAS00000000064	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 JGAS00000000115	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 JGAS00000000120	Genome-wide analysis of SNPs in Healthy Japanese	v1:2017/09/26 v1:2017/10/03	SNP-chip Control Set	Affymetrix (Axiom ASI/6.0)	419 Participants (Japanese)	Katsushi Tokunaga	Unrestricted-access Controlled-Access (Type I)
hum0083.v1 JGAS00000000070	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 JGAS00000000108	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 X-10, HiSeq 4000)	72 malignant mesotheliomas (Japanese, Americans)	Masaki Ohmuraya	Controlled-Access (Type I)
hum0086.v3 JGAS00000000073 (JGA00000000074) JGAS00000000107 (JGA00000000117)	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 JGAS00000000077 JGAS00000000096	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 JGAS00000000078 JGAS00000000079 JGAS00000000080	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)
hum0094.v3 JGAS00000000095 JGAS00000000105 JGAS00000000113	Genomic and epigenomic analysis of different types of cancer	v1:2017/09/04 v2:2018/01/22 v3:2019/02/12	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 lung adenocarcinoma patients 150 colorectal cancers (Japanese)	Hiroyuki Mano	Controlled-Access (Type I)
hum0095.v1 JGAS00000000092	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 JGAS00000000090 JGAS00000000138	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 JGAS00000000094	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 JGAS00000000085	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 JGAS00000000098	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 JGAS00000000109	Genome sequencing analysis for biliary tract cancer	v1:2018/02/27 v2:2019/06/21	NGS (WGS, Exome)	Illumina (Hiseq 2000/2500)	98 biliary tract cancers (Japanese)	Hidewaki Nakagawa	Controlled-Access (Type I)
hum0107.v1 JGAS00000000099	Establish induced pluripotent stem (iPS) cells from patients with Gorlin syndrome and elucidate the pathology	v1:2017/10/02	NGS (Exome)	Illumina (Hiseq 2500/4000)	4 patients with Gorlin syndrome (Japanese)	Toshifumi Azuma	Controlled-Access (Type I)
hum0108.v1 JGAS00000000111	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.v2 JGAS00000000103 JGAS00000000141	Analysis of gastric cancer genome and its clinicopathological significance	v1:2017/07/31 v2:2019/05/31	NGS (RNA-seq, Amplicon-seq)	Illumina (HiSeq 2000, MiSeq)	30 diffuse-type gastric carcinomas 60 gastric carcinomas (Japanese)	Shumpei Ishikawa	Controlled-Access (Type I)
hum0112.v1 JGAS00000000112 (JGA00000000122)	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)
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
hum0117.v1 JGAS00000000125	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 JGAS00000000124	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 JGAS00000000126	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)
hum0122.v1	Mutation analysis of iPS cells derived from commercially-avaialble human primary cells	v1:2020/01/14	NGS (WGS) SNP-chip	Illumina (HiSeq X, Infinium Omni2.5-8 v1.4 BeadChip)	human iPS cells and their parental cells: total 27 samples	Ryoko Araki	Unrestricted-access
hum0124.v1 JGAS00000000129	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 JGAS00000000127	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.v1	Identification of the disease and drug susceptibility genes for the Childhood Idiopathic Nephrotic Syndrome	v1:2018/04/27	SNP-chip	Affymetrix (Japonica Array v1)	224 Childhood Idiopathic Nephrotic Syndrome patients 419 healthy controls (Japanese)	Kazumoto Iijima	Unrestricted-access
hum0128.v1 JGAS00000000153	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 JGAS00000000131	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 JGAS00000000150	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 JGAS00000000132	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 JGAS00000000137	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 JGAS00000000086	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 JGAS00000000087	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.v1	Construction of integrated clinical genome database regarding hepatitis B related diseases	v1:2018/05/22	SNP-chip	Affymetrix (Axiom ASI)	1,193 individuals vaccinated with a HB vaccine (Japanese)	Masashi Mizokami	Unrestricted-access
hum0137.v1 JGAS00000000144	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)
hum0139.v1 JGAS00000000136	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 JGAS00000000158	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 JGAS00000000135	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 JGAS00000000147	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)
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
hum0148.v1 JGAS00000000149	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 JGAS00000000182	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 JGAS00000000177	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 JGAS00000000164	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 JGAS00000000151	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)
hum0160.v1 JGAS00000000155	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)
hum0163.v1	Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology	v1:2018/12/14	NGS (Target Capture)	Illumina (MiSeq)	990 patients with psychiatric/neurological disorders and cancers (Japanese)	Taisei Mushiroda	Unrestricted-access
hum0164.v1 JGAS00000000160	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 JGAS00000000162	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 JGAS00000000169	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.v1 JGAS00000000178	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	NGS (Exome)	Illumina (HiSeq 2500)	2 PCNSL patinets (Japanese)	Tetsuya Yamamoto	Controlled-Access (Type I)
hum0173.v1 JGAS00000000171	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)
hum0175.v1 JGAS00000000174	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 JGAS00000000172	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)
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.v1 JGAS00000000180 DRA008482	Comprehansive analysis of somatic mutations and genetic variations with whole genome sequencing	v1:2019/06/20	NGS (WGS)	Nanopore (MinION)	liver cancer (normal cell): 1 case HapMap: 1 sample (Japanese)	Akihiro Fujimoto	Controlled-Access (Type I) Unrestricted-access
hum0188.v1 JGAS00000000179	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 (Japanese)	Hiroyuki Mano	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.v1 JGAS00000000205	Elucidation of disease state by multi-layered omics analysis	v1:2019/11/15	Metagenome	Illumina (HiSeq 3000)	95 individuals (Japanese)	Yukinori Okada	Controlled-Access (Type I)
hum0201.v1 JGAS00000000199	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	NGS (Exome)	Illumina (HiSeq2500/4000)	gastrointestinal inflammatory disease: 29 cases gastrointestinal inflammatory disease with neoplastic disease: 26 cases control patients who underwent colonoscopy: 16 individuals (Japanese)	Toshiro Sato	Controlled-Access (Type I)
hum0206.v1 JGAS00000000207	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 (HiSeq2500, HiSeq series, Infinium OmniExpressExome BeadChips)	rheumatoid arthritis: 30 cases osteoarthritis: 30 cases (Japanese)	Keishi Fujio	Unrestricted-access
hum0208.v1 JGAS00000000214	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

Research ID

Study Title

Release Date

Type of Study

Platform

Participants/Materials

(Ethnicity)

Data Provider

Type of Data

hum0001.v1

JGAS00000000002

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

JGAS00000000001

Molecular Epidemiological Study of

Somatic Mutation Profiles of EGFR

Mutation Positive Lung Adenocarcinoma

v1:2014/07/11

NGS (Exome)

Illumina

(GAIIx)

97 Patients

(Japanese)

Koichi Goto

Controlled-Access

(Type I)

hum0005.v5

DRA001273

JGAS00000000032

DRA003791

JGAS00000000093

JGAS00000000123

JGAS00000000166

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

JGAS00000000004

JGAS00000000106

JGAS00000000146

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

JGAS00000000005

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

JGAS00000000007

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

JGAS00000000008

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

JGAS00000000015

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

JGAS00000000012

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.v18

JGAS00000000101

JGAS00000000114

JGAS00000000140

JGAS00000000203

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

SNP-chip

Case-Control

NGS

(WGS, Target Capture)

Illumina

(Human610-Quad, HumanHap550v3, HumanOmniExpress-12, HumanExome, OmniExpressExome, HiSeq2500)

Perlegen Sciences

(high-density oligonucleotide arrays)

Hologic Japan

(Invader)

1666 MIs and 3198 ctrls

934 ctrls (JSNP)

35 diseases (JSNP)

182 esophageal cancers (JSNP)

92 ALSs (JSNP)

9817 T2DMs and 6763 ctrls

5646 T2DMs and 19,420 ctrls

1472 ADs and 7966 ctrls

8180 AFs and 28,612 ctrls

158,284 individuals for BMI study

182,505 individuals' genotype data

3980 POAGs and 18,815 ctrls

162,255 individuals for 58 quantitative traits study

67,029 females with information on age at menarche

43,861 females with information on age at menopause

1,026 individuals for WGS

7,104 breast cancer patients and 23,731 controls

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

36,614 T2DMs and 155,150 ctrls

165,436 Japanese individuals with information on smoking behaviour

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

159,095 individuals for height study

7,636 prostate cancer patients and 12,366 ctrls

212,453 individuals for 41 diseases

(Japanese)

Michiaki Kubo

Un-restricted Access

Controlled-Access

(Type I)

hum0015.v3

JGAS00000000159

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

JGAS00000000021

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

JGAS00000000009

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

JGAS00000000011

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

JGAS00000000013

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.v1

JGAS00000000014

Genetic Analysis in Psychiatric Disorders

v1:2015/01/08

NGS

(Exome)

Illumina

(HiSeq 2000)

Healthy Monozygotic Twins

3 Pairs [6 Participants]

(Japanese)

Tadafumi Kato

(Genome Science)

Controlled-Access

(Type I)

hum0022.v1

JGAS00000000017

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

JGAS00000000016

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

JGAS00000000023

Comprehensive Analysis of Genetic Alterations in Hematological Malignancies

v1:2015/04/16

NGS

(Exome)

Illumina

(GAIIx,

Hiseq 2000/2500)

13 MDSs and 1 CMML

(Japanese)

Seishi Ogawa

(P-DIRECT)

Controlled-Access

(Type I)

hum0027.v1

JGAS00000000024

JGAS00000000040

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

JGAS00000000018

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.v1

Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome

v1:2016/03/09

SNP-chip

Case-Control

Affymetrix

(Axiom ASI)

117 SJSs and 691 controls

(Japanese)

Mayumi Ueta

(Genome Science)

Un-restricted Access

hum0030.v1

JGAS00000000022

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

JGAS00000000042
JGAS00000000043
JGAS00000000044
JGAS00000000045

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

JGAS00000000026

JGAS00000000027

JGAS00000000028

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

(GAIIx)

1 Participant

(3 Samples)

(Japanese)

Ryohei Yanoshita

Un-restricted Access

hum0034.v1

JGAS00000000037

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.v2

JGAS00000000036

JGAS00000000046

JGAS00000000088

Genome wide analysis of gene mutations in solid tumors

v1:2015/09/16

v2:2017/12/26

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

(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

JGAS00000000035

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

JGAS00000000041

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

JGAS00000000039

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

JGAS00000000038

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

JGAS00000000052

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

JGAS00000000051

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)

(Japanese)

Yorifumi Satou

Un-restricted Access

hum0045.v1

JGAS00000000047

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

JGAS00000000053

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.v1

JGAS00000000062

Identification of new molecular targets with profiling of malignant mesothelioma

v1:2016/07/20

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

38 malignant mesothelioma

(Japanese)

Takashi Nakano

(P-DIRECT)

Controlled-Access

(Type I)

hum0055.v1

JGAS00000000059

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

JGAS00000000091

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

JGAS00000000104

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

JGAS00000000075

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

JGAS00000000057

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

JGAS00000000061

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

JGAS00000000089

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)

hum0067.v1

JGAS00000000076

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.v1

JGAS00000000065

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

v1:2017/07/10

NGS

(PCR amplicon Seq)

Nanopore

(MinION)

8 lung adenocarcinoma patients

(Japanese)

Takashi Kono

Controlled-Access

(Type I)

hum0069.v1

JGAS00000000064

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

JGAS00000000115

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

JGAS00000000120

Genome-wide analysis of SNPs in Healthy Japanese

v1:2017/09/26

v1:2017/10/03

SNP-chip

Control Set

Affymetrix

(Axiom ASI/6.0)

419 Participants

(Japanese)

Katsushi Tokunaga

Unrestricted-access

Controlled-Access

(Type I)

hum0083.v1

JGAS00000000070

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

JGAS00000000108

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 X-10, HiSeq 4000)

72 malignant mesotheliomas

(Japanese, Americans)

Masaki Ohmuraya

Controlled-Access

(Type I)

hum0086.v3

JGAS00000000073
(JGA00000000074)

JGAS00000000107
(JGA00000000117)

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

JGAS00000000077

JGAS00000000096

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

JGAS00000000078

JGAS00000000079

JGAS00000000080

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)

hum0094.v3

JGAS00000000095

JGAS00000000105

JGAS00000000113

Genomic and epigenomic analysis of different types of cancer

v1:2017/09/04

v2:2018/01/22

v3:2019/02/12

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 lung adenocarcinoma patients

150 colorectal cancers

(Japanese)

Hiroyuki Mano

Controlled-Access

(Type I)

hum0095.v1

JGAS00000000092

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

JGAS00000000090

JGAS00000000138

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

JGAS00000000094

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

JGAS00000000085

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

JGAS00000000098

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

JGAS00000000109

Genome sequencing analysis for biliary tract cancer

v1:2018/02/27

v2:2019/06/21

NGS

(WGS, Exome)

Illumina

(Hiseq 2000/2500)

98 biliary tract cancers

(Japanese)

Hidewaki Nakagawa

Controlled-Access

(Type I)

hum0107.v1

JGAS00000000099

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

v1:2017/10/02

NGS

(Exome)

Illumina

(Hiseq 2500/4000)

4 patients with Gorlin syndrome

(Japanese)

Toshifumi Azuma

Controlled-Access

(Type I)

hum0108.v1

JGAS00000000111

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.v2

JGAS00000000103

JGAS00000000141

Analysis of gastric cancer genome and its clinicopathological significance

v1:2017/07/31

v2:2019/05/31

NGS

(RNA-seq,

Amplicon-seq)

Illumina

(HiSeq 2000, MiSeq)

30 diffuse-type gastric carcinomas

60 gastric carcinomas

(Japanese)

Shumpei Ishikawa

Controlled-Access

(Type I)

hum0112.v1

JGAS00000000112

(JGA00000000122)

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)

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

hum0117.v1

JGAS00000000125

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

JGAS00000000124

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

JGAS00000000126

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)

hum0122.v1

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

v1:2020/01/14

NGS

(WGS)

SNP-chip

Illumina

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

human iPS cells and their parental cells: total 27 samples

Ryoko Araki

Unrestricted-access

hum0124.v1

JGAS00000000129

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

JGAS00000000127

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.v1

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

v1:2018/04/27

SNP-chip

Affymetrix

(Japonica Array v1)

224 Childhood Idiopathic Nephrotic Syndrome patients

419 healthy controls

(Japanese)

Kazumoto Iijima

Unrestricted-access

hum0128.v1

JGAS00000000153

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

JGAS00000000131

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

JGAS00000000150

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

JGAS00000000132

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

JGAS00000000137

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

JGAS00000000086

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

JGAS00000000087

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.v1

Construction of integrated clinical genome database regarding hepatitis B related diseases

v1:2018/05/22

SNP-chip

Affymetrix

(Axiom ASI)

1,193 individuals vaccinated with a HB vaccine

(Japanese)

Masashi Mizokami

Unrestricted-access

hum0137.v1

JGAS00000000144

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)

hum0139.v1

JGAS00000000136

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

JGAS00000000158

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

JGAS00000000135

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

JGAS00000000147

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)

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

hum0148.v1

JGAS00000000149

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

JGAS00000000182

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

JGAS00000000177

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

JGAS00000000164

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

JGAS00000000151

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)

hum0160.v1

JGAS00000000155

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)

hum0163.v1

Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology

v1:2018/12/14

NGS

(Target Capture)

Illumina

(MiSeq)

990 patients with psychiatric/neurological disorders and cancers

(Japanese)

Taisei Mushiroda

Unrestricted-access

hum0164.v1

JGAS00000000160

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

JGAS00000000162

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

JGAS00000000169

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.v1

JGAS00000000178

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

NGS

(Exome)

Illumina

(HiSeq 2500)

2 PCNSL patinets

(Japanese)

Tetsuya Yamamoto

Controlled-Access

(Type I)

hum0173.v1

JGAS00000000171

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)

hum0175.v1

JGAS00000000174

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

JGAS00000000172

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)

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.v1

JGAS00000000180

DRA008482

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

v1:2019/06/20

NGS

(WGS)

Nanopore

(MinION)

liver cancer (normal cell): 1 case

HapMap: 1 sample

(Japanese)

Akihiro Fujimoto

Controlled-Access

(Type I)

Unrestricted-access

hum0188.v1

JGAS00000000179

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

(Japanese)

Hiroyuki Mano

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.v1

JGAS00000000205

Elucidation of disease state by multi-layered omics analysis

v1:2019/11/15

Metagenome

Illumina

(HiSeq 3000)

95 individuals

(Japanese)

Yukinori Okada

Controlled-Access

(Type I)

hum0201.v1

JGAS00000000199

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

NGS

(Exome)

Illumina

(HiSeq2500/4000)

gastrointestinal inflammatory disease: 29 cases

gastrointestinal inflammatory disease with neoplastic disease: 26 cases

control patients who underwent colonoscopy: 16 individuals

(Japanese)

Toshiro Sato

Controlled-Access

(Type I)

hum0206.v1

JGAS00000000207

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

(HiSeq2500, HiSeq series, Infinium OmniExpressExome BeadChips)

rheumatoid arthritis: 30 cases

osteoarthritis: 30 cases

(Japanese)

Keishi Fujio

Unrestricted-access

hum0208.v1

JGAS00000000214

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

# 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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