About NBDC Human Database

An enormous amount of human data is being generated with advances in next-generation sequencing and other analytical technologies. We therefore need rules and mechanisms for organizing and storing such data and for effectively utilizing them to make progress in the life sciences.

To promote sharing and utilization of human data while considering protection of personal information, the National Bioscience Database Center (NBDC) of the Japan Science and Technology Agency (JST) created a platform for sharing various data generated from human specimens, which are available for publicly access in cooperation with the DNA Data Bank of JapanDDBJ logo ddbj 2013.

You can apply to use or submit human data through this website.

* Data users need to apply the Form 2 (Application Form for Using NBDC Human Data) to reach the Controlled-Access Data. Learn more

Research IDStudy TitleRelease DateType of StudyPlatform

Participants/Materials

(Ethnicity)

Data ProviderType 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.v3

DRA001273

JGAS00000000032

DRA003791

JGAS00000000093

Genetic Analysis of Hearing Loss and Its Clinical Application

v1:2014/01/27

v2:2017/02/24

v3:2017/06/19

NGS

(Target Capture)

Life technoligies

(Ion PGM)

17 UsherSyndrome patients

63 Non-syndromic hearing loss patients

(Japanese)

Shin-ichi Usami

Un-restricted Access

Controlled-Access

(Type I)

hum0006.v3

JGAS00000000004

JGAS00000000106

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

NGS

(Exome, RNA-seq)

Methylation array

Illumina

(HiSeq 2000,

HumanMethlyation450)

6 astrocytomas

16 oligodendrogliomas

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

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.

v1:2015/06/17

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.v6

JGAS00000000101

JGAS00000000114

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

SNP-chip

Case-Control

Illumina

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

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

(Japanese)

Michiaki Kubo

Un-restricted Access

Controlled-Access

(Type I)

hum0015.v1

Construction of the Whole-genome Reference

Panel of 1070 Japanese Individuals

v1:2014/10/14

NGS

(WGS)

Illumina

(HiSeq 2500)

1070 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

v1:2015/01/31

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.v1

JGAS00000000018

Biobank Japan Project

v1:2015/06/02

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

v1:2015/04/01

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)

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.v1

JGAS00000000036

Genome wide analysis of gene mutations in solid tumors

v1:2015/09/16

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

16 RMSs and 7 PPBs

(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 2500)

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

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

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

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)

Illumina

(HiSeq 2500)

60 NAFLD patients

(Japanese)

Kikuko Hotta

(Genome Science)

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)

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)

hum0075.v1

Search for susceptibility genes to hepatitis virus B-related diseases

v1:2017/09/25

SNP-chip

Affymetrix

(SNP Array 6.0)

181 HBV carriers

185 spontaneously HBV-resolved individuals

184 controls

(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.v1

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

Array CGH, NGS (WGS, Target Capture)

Illumina

(MiSeq, HiSeq X-10)

33 malignant mesotheliomas

(Japanese, Americans)

Masaki Ohmuraya

Controlled-Access

(Type I)

hum0086.v1

JGAS00000000073

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

v1:2017/09/25

NGS

(WGBS

ChIP-seq

RNA-seq

small RNA-seq)

Illumina

(HiSeq 1500/2500)

20 normal placenta and uterus cells

(Japanese)

Hiroyuki Sasaki

(IHEC)

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.v1

JGAS00000000095

Genomic and epigenomic analysis of different types of cancer

v1:2017/09/04

NGS

(WGS, Exome, RNA-seq)

Illumina

(HiSeq 2000/2500)

68 breast cancer patients

(Japanese)

Hiroyuki Mano

Controlled-Access

(Type I)

hum0096.v1

JGAS00000000090

Comprehensive analysis of genetic alterations in hematological malignancies

v1:2017/05/25

NGS

(RNA-seq)

Illumina

(HiSeq 2500)

123 pediatric T-ALL patients

(Japanese)

Junko Takita

Controlled-Access

(Type I)

hum0099.v1

JGAS00000000085

Expression quantitative trait loci analysis using human immune cells

v1:2017/04/24

RNA-seq

SNP-chip

Illumina

(Hiseq 2500, Infinium OmniExpressExome BeadChips)

105 healthy volunteers

(Japanese)

Kazuhiko Yamamoto

Unrestricted-access

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.v1

JGAS00000000103

Analysis of gastric cancer genome and its clinicopathological significance

v1:2017/07/31

NGS

(RNA-seq,

Amplicon-seq)

Illumina

(HiSeq 2000, MiSeq)

30 diffuse-type gastric carcinomas

(Japanese)

Shumpei Ishikawa

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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