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Research IDStudy TitleRelease DateType of StudyPlatform

Participants/Materials

(Ethnicity)

Data ProviderType of Data

hum0001.v1

JGAS000002

Sequence Data of a SCA31 Patient

v1:2013/12/01

Single Patient

NGS (WGS)

Illumina

(HiSeq 2000)

1 Patient

(Japanese)

Shinichi Morishita

Controlled-access

(Type I)

hum0004.v1

JGAS000001

Molecular Epidemiological Study of

Somatic Mutation Profiles of EGFR

Mutation Positive Lung Adenocarcinoma

v1:2014/07/11

NGS (Exome)

Illumina

(Genome Analyzer IIx)

97 Patients

(Japanese)

Koichi Goto

Controlled-access

(Type I)

hum0005.v8

DRA001273

JGAS000032

DRA003791

JGAS000093

JGAS000123

JGAS000166

JGAS000191

JGAS000192

JGAS000200

JGAS000201

JGAS000323

JGAS000490

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

v6:2021/07/30

v7:2021/11/19

v8:2023/10/02

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion PGM, Ion Proton, Ion S5)

Illumina

(HiSeq 2000)

17 UsherSyndrome patients

3,156 Non-syndromic hearing loss patients

(Japanese)

Shin-ichi Usami

Unrestricted-access

Controlled-access

(Type I)

hum0006.v5

JGAS000004

JGAS000106

JGAS000146

JGAS000325

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

v5:2022/08/08

NGS

(Exome, RNA-seq, Target Capture)

Methylation array

Illumina

(HiSeq 2000/2500, HumanMethylation450)

6 astrocytomas

16 oligodendrogliomas

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

94 gliomas

12 cerebral cavernous malformations

1 vertebral hemangioma

3 orbital cavernous malformations

(Japanese)

Nobuhito Saito

(P-DIRECT)

Controlled-access

(Type I)

hum0007.v1

JGAS000005

Gene Expression of Human Th17 Cells

Before and After Activation

v1:2015/02/12

NGS

(RNA-seq)

Applied BioSystems

(5500 Genetic Analyzer)

1 Participant

(4 Samples)

(Japanese)

Sanju Iwamoto

Controlled-access

(Type I)

hum0008.v1

JGAS000007

Research for genetic causes and mechanisms of Hirschsprung's

 

v1:2018/01/29

NGS

(Exome)

Illumina

(HiSeq 2000)

5 Patients with Hirschsprung's diseases

and 6 their families

(Japanese)

Hiroshi Matsufuji

Controlled-access

(Type I)

hum0009.v3

DRA003802

DNA Methylation Analysis of Early Human Embryos

v1:2014/12/24

v2:2015/01/07

v3:2015/08/03

NGS

(PBAT-seq)

Illumina

(HiSeq 2000/2500)

11 Libraries

(Japanese)

Takahiro Arima

Unrestricted-access

hum0010.v1

JGAS000008

Research for candidate genes of splenic epidermoid cyst.

v1:2015/06/23

NGS

(Exome)

Illumina

(HiSeq 2000)

8 Splenic epidermoid cysts

(Japanese)

Hiroshi Matsufuji

Controlled-access

(Type I)

hum0011.v1

JGAS000015

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

v1:2015/10/07

NGS

(Target Capture)

Roche GS FLX Titanium

2 Cell lines

8 HB-HCC primary tissues

(Japanese)

Hiroyuki Yamamoto

Controlled-access

(Type I)

hum0012.v1

JGAS000012

Nagahama Zero-ji Preventive Cohort Project

v1:2015/08/19

SNP-chip

Control Set

Cohort

Illumina

(Human610-Quad,

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

HumanExome-12,

HumanCoreExome-12)

3712 Participants

(Japanese)

Fumihiko Matsuda

Controlled-access

(Type I)

hum0013.v1

Japan PGx Data Science Consortium Database

v1:2014/10/16

SNP-chip

Control Set

Illumina

(HumanOmni2.5-8)

2994 Participants

(Japanese)

Koji Suematsu

Unrestricted-access

hum0014.v33

JGAS000101

JGAS000114*

JGAS000140

JGAS000203

JGAS000293

JGAS000327

JGAS000346

JGAS000381*

JGAS000414

JGAS000347

JGAS000592

JGAS000647

JGAS000698

JGAS000699

JGAS000700

JGAS000701

JGAS000703

Bio Bank Japan project

v1:2014/09/30

v2:2015/12/28

v3:2016/01/28

v4:2016/02/02

v5:2017/05/18

v6:2017/09/08

v7:2018/04/04

v8:2018/05/01

v9:2018/08/07

v10:2018/08/13

v11:2018/10/16

v12:2018/12/10

v13:2019/01/25

v14:2019/03/26

v15:2019/09/27

v16:2019/10/07

v17:2019/10/08

v18:2019/11/26

v19:2020/04/20

v20:2020/08/17

v21:2020/08/25

v22:2021/05/21

v23:2021/07/13

v24:2021/11/26

v25:2022/01/25

v26:2022/04/01

v27:2023/01/18

v28:2023/04/05

v29:2023/04/05

v30:2023/04/20

v31:2023/09/01

v32:2024/01/11

v33:2024/05/27

SNP-chip

Case-Control

NGS

(WGS, Target Capture)

Illumina

(Human610-Quad, HumanHap550v3, HumanOmniExpress-12, HumanExome, OmniExpressExome, HumanExome-12, Infinium OmniExpress-24, Infinium HumanOmniExpressExome-8, HiSeq 2500/X Five)

Perlegen Sciences

(high-density oligonucleotide arrays)

Hologic Japan

(Invader)

v1:1666 MIs and 3198 ctrls

v2:934 ctrls (JSNP)

v2:35 diseases (JSNP)

v2:182 esophageal cancers (JSNP)

v2:92 ALSs (JSNP)

v3:9817 T2DMs and 6763 ctrls

v3:5646 T2DMs and 19,420 ctrls

v4:1472 ADs and 7966 ctrls

v5:8180 AFs and 28,612 ctrls

v6:158,284 individuals for BMI study

v6:182,505 individuals' genotype data

v7:3980 POAGs and 18,815 ctrls

v8:162,255 individuals for 58 quantitative traits study

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

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

v10:1,026 individuals for WGS

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

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

v13:36,614 T2DMs and 155,150 ctrls

v14:165,436 individuals with information on smoking behaviour

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

v15:159,095 individuals for height study

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

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

v19:165,084 individuals with information on dietary habits

v2025,892 CADs and 142,336 ctrls

v22:11,234 individuals from biobank Japan

v23:768 individuals from biobank Japan

v24:1,005 pancreatic cancer patients, 12,503 colorectal cancer patients and 23,705 ctrls

v25:1,765 myocardial infarction patients and 199 dementia patients

v26:740 renal cell cancer patients and 5,996 controls

v27:137,693 individuals from biobank Japan

v28:4,880 individuals from biobank Japan

v29:9,826 AFs and 140,446 ctrls (BBJ cohot)

       60,620 AFs and 970,216 ctrls (European)

       7,244 AFs and 56,378 ctrls (FinnGenn)

v30:1,982 lymphoma patients, 10,366 gastric cancer patients and 37,592 controls (BBJ cohot)

v32:1,007 individuals from biobank Japan

v33: 256 gastric cancer patients

v33: 269,000 patients for 51 diseases

v33: 617 colorectal cancer patients

v33: 2,162 diabetes patients

v33: 2,067 gastric cancer patients

(Japanese, European, Finnish)

Michiaki Kubo

Unrestricted-access

Controlled-access

(Type I)

hum0015.v3

JGAS000159

Construction of the Whole-genome Reference

Panel of 3552 Japanese Individuals

v1:2014/10/14

v2:2018/12/27

v3:2019/01/11

NGS

(WGS)

Illumina

(HiSeq 2500)

3552 Participants

(Japanese)

Masayuki Yamamoto

(ToMMo)

Unrestricted-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

Unrestricted-access

hum0017.v1

JGAS000021

Exome sequencing of primary central nervous system lymphoma

v1:2016/02/22

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2000)

41 PCNSLs

(Japanese)

Hiroyuki Mano

Controlled-access

(Type I)

hum0018.v1

JGAS000009

Genetic analysis in neurodegenerative disorders

v1:2015/02/03

NGS

(Exome)

Illumina

(HiSeq 2000)

14 MSAs and 7 Controls

(Japanese)

Shoji Tsuji

Controlled-access

(Type I)

hum0019.v1

JGAS000011

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

v1:2015/04/01

NGS

(RNA-seq)

Tumor vs. Matched-Normal

Illumina

(HiSeq 2500)

17 GICs

(32 Samples)

(Japanese)

Yasuhisa Shinomura

(Genome Science)

Controlled-access

(Type I)

hum0020.v1

JGAS000013

Genetic Analysis in Amyotrophic Lateral Sclerosis

v1:2015/01/08

NGS

(Exome)

Illumina

(HiSeq 2000)

11 ALSs

(Japanese)

Fumiaki Tanaka

(Genome Science)

Controlled-access

(Type I)

hum0021.v3

JGAS000014

JGAS000273

Genetic Analysis in Psychiatric Disorders

v1:2015/01/08

v2:2021/03/05

v3:2021/04/20

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

Healthy Monozygotic Twins: 3 Pairs (6 Participants)

66 + 78 trios with bipolar disorder proband and unaffected parents

(Japanese)

Tadafumi Kato

(Genome Science)

Controlled-access

(Type I)

hum0022.v1

JGAS000017

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

v1:2015/02/02

NGS

(Exome)

Illumina

(HiSeq 2000)

1 DCL (5 Samples from Each Stage)

1 Donor

(Japanese)

Hitoshi Kiyoi

(P-DIRECT)

Controlled-access

(Type I)

hum0023.v1

JGAS000016

Genetic Analysis in Lifestyle-Related Disease,

Arteriosclerotic Disease, and

Aging-Related Diseases

v1:2015/01/28

NGS

(Exome)

Illumina

(HiSeq 2000)

30 Hypertensions

(Japanese)

Tetsurou Miki

(Genome Science)

Controlled-access

(Type I)

hum0024.v1

JGAS000023

Comprehensive Analysis of Genetic Alterations in Hematological Malignancies

v1:2015/04/16

NGS

(Exome)

Illumina

(Genome Analyzer IIx, HiSeq 2000/2500)

13 MDSs and 1 CMML

(Japanese)

Seishi Ogawa

(P-DIRECT)

Controlled-access

(Type I)

hum0027.v1

JGAS000024

JGAS000040

Identification of genetic polymorphism on aggressive periodontitis

v1:2016/07/28

NGS

(Exome)

Illumina

(HiSeq 2000)

Periodontitis patients

(Japanese)

Shinya Murakami

Controlled-access

(Type I)

hum0028.v2

JGAS000018

Biobank Japan Project

v1:2015/06/02

v2:2018/06/05

SNP-chip

Illumina

(HumanOmniExpress, HumanExome, ImmunoChip, HumanHap550v3 Genotyping BeadChip)

908 Participants

(Japanese)

Michiaki Kubo

(BBJ)

Controlled-access

(Type I)

hum0029.v2

Study of Genome Polymorphism/Variation on Stevens-Johnson Syndrome

v1:2016/03/09

v1:2020/12/21

SNP-chip

Case-Control

Affymetrix

(Axiom ASI)

Illumina

(HiSeq X Ten)

117 SJSs and 691 controls

133 SJS/TENs and 418 controls

(Japanese)

Mayumi Ueta

(Genome Science)

Unrestricted-access

hum0030.v2

JGAS000022

JGAS000560

The Molecular Biological Analysis about Occurrence and Malignant Transformation in gynecological carcinogenesis

v1:2015/04/01

v2:2024/05/10

SNP-chip

CNV Analysis

NGS

(Exome, RNA-seq)

Affymetrix

(Human Mapping 250K Nsp Array)

Illumina

(HiSeq 2000)

57 + 111 Ovarian carcinomas

(Japanese)

Katsutoshi Oda

(P-DIRECT)

Controlled-access

(Type I)

hum0031.v1

JGAS000042
JGAS000043
JGAS000044
JGAS000045

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

v1:2015/11/20

Neuroimage

Clinical Info

Philips

(Achieva)

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

(Japanese)

Kiyoto Kasai

Unrestricted-access

Controlled-access

(Type I)

hum0032.v1

JGAS000026

JGAS000027

JGAS000028

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

(HPC series)

v1:2016/07/22

NGS

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

Illumina

(HiSeq 2000/2500)

8 partial hepatectomy specimens

(Japanese)

Yae Kanai

(IHEC)

Controlled-access

(Type I)

hum0033.v1

DRA003516

Functional analysis of two types of exosome

in human whole saliva

v1:2015/05/01

NGS

(RNA-seq)

Illumina

(Genome Analyzer IIx)

1 Participant

(3 Samples)

(Japanese)

Ryohei Yanoshita

Unrestricted-access

hum0034.v1

JGAS000037

Identification of novel therapeutic targets of

small cell lung cancer by comprehensive genomic analyses

v1:2015/10/01

NGS

(Exome)

Illumina

(HiSeq 2000)

51 SCLCs

(Japanese)

Koichi Goto

(P-DIRECT)

Controlled-access

(Type I)

hum0035.v5

JGAS000036

JGAS000046

JGAS000088

JGAS000188

JGAS000204

JGAS000246

Genome wide analysis of gene mutations in solid tumors

v1:2015/09/16

v2:2017/12/26

v3:2020/05/29

v4:2020/12/14

v5:2020/12/18

NGS

(Exome, Target Capture, RNA-seq)

SNP-chip

Methylation array

Illumina

(HiSeq 2000/2500, MiSeq, MethylationEPIC)

Affymetrix

(Human Mapping 250K Nsp, CytoScan HD)

16 RMSs

7 PPBs

522 NBs

39 neuroblastoma cell lines

10 PBLs

59 HBLs

2 HBL cell lines

51 patients with pediatric germ cell tumors

30 patients with high-risk neuroblastoma

(Japanese)

Junko Takita

(P-DIRECT)

Controlled-access

(Type I)

hum0036.v1

DRA003736

Performance Comparison of Four Commercial Human Whole-Exome Capture Platforms

v1:2015/08/01

NGS

(Exome)

Platform comparison

Illumina

(HiSeq 2500)

2 HapMap-JPT samples

(Japanese)

Michiaki Kubo

Unrestricted-access

hum0037.v1

JGAS000035

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

v1:2015/09/24

NGS

(Exome)

Illumina

(HiSeq 2000)

39 RAs

10 Controls (pooled)

(Japanese)

Shigeki Mitsunagai

(Genome Science)

Controlled-access

(Type I)

hum0038.v1

JGAS000041

Genetic analysis in an inherited cardiac arrhythmia

v1:2015/11/18

NGS

(Exome)

Illumina

(HiSeq 2000)

11 Patients with an inherited cardiac arrhythmia

(Japanese)

Naomasa Makita

(Genome Science)

Controlled-access

(Type I)

hum0039.v1

JGAS000039

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

v1:2016/12/27

NGS

(Exome)

Illumina

(HiSeq 1500) 

4 Imatinib resistant GIST

(Japanese)

Tsuyoshi Takahashi

Controlled-access

(Type I)

hum0040.v1

JGAS000038

Epigenomic analysis of the human placenta

v1:2016/09/16

NGS

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

Illumina

(HiSeq 2500)

28 human placenta

26 maternal blood samples

(Japanese)

Takahiro Arima

(IHEC)

Controlled-access

(Type I)

hum0041.v1

JGAS000052

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

v1:2017/01/12

NGS

(Exome, Target Capture)

Illumina

(HiSeq 2000)

33 primary HCC

(Japanese)

Shinji Tanaka

(P-DIRECT)

Controlled-access

(Type I)

hum0042.v1

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

v1:2016/03/02

NGS

(WGS)

Illumina

(HumanOmniExpress)

146 TMJ and 374 controls

149 third molar agenesis and 338 controls

(Japanese, Korean)

Tetsutarou Yamaguchi

(Genome Science)

Controlled-access

(Type I)

hum0043.v1

JGAS000051

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

v1:2016/01/29

Neuroimage

Clinical Info

MRI Scanners (15 Models)

PET Scanners (16 Models)

234 MCI

154 AD

149 healthly controls

(Japanese)

Takeshi Iwatsubo

Unrestricted-access

Controlled-access

(Type I)

hum0044.v1

DRA004162

Research about retrovirus infection

v1:2016/10/31

NGS

(ChIP-seq)

Illumina

(NextSeq 500)

1 ED (ATL cell line)

(Cell-line)

Yorifumi Satou

Unrestricted-access

hum0045.v1

JGAS000047

Transcriptome analysis of acute lymphoblastic leukemia in adolescents and young adults

v1:2016/03/29

NGS

(RNA-seq)

Illumina

(HiSeq 2000/2500)

99 Ph(-) ALL

3 Ph(+) ALL

5 cell lines

8 normal hematopoietic cells

(Japanese)

Hiroyuki Mano

(P-DIRECT)

Controlled-access

(Type I)

hum0048.v1

DRA004251

Whole exome sequencing on ampullary carcinomas

v1:2016/02/05

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

60 Patients with ampullary cancer

(28 Japanese patients and 32 American patients)

Shinich Yachida

Unrestricted-access

hum0050.v1

JGAS000053

Transcriptome analysis of Hepatitis B for drug discovery and clinical applications

v1:2016/09/30

NGS

(CAGE-seq)

Illumina

(HiSeq 2000)

8 HBV (Genotype C) positive patients

(Japanese)

Tomokazu Matsuura

Controlled-access

(Type I)

hum0053.v2

JGAS000062

JGAS000176

Identification of new molecular targets with profiling of malignant mesothelioma

v1:2016/07/20

v2:2020/04/14

NGS

(Exome, WGS)

Illumina

(HiSeq 2000/2500)

10x Genomics

(Chromium Controller)

38 Malignant pleural mesothelioma

(Japanese)

Takashi Nakano

(P-DIRECT)

Controlled-access

(Type I)

hum0055.v1

JGAS000059

Genetic and epigentic analysis of non-alcoholic fatty liver disease

v1:2017/02/20

NGS

(RNA-seq)

Methylation array

Illumina

(HiSeq 2500, HumanMethylation450)

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

Unrestricted-access

hum0058.v1

JGAS000091

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

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

89 colorectal cancers

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-access

(Type I)

hum0059.v1

JGAS000104

Identification of genetic mutations characteristic for recurrence of serous ovarian cancer

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

65 ovarian cancer

(Japanese)

Kazuyoshi Kato

(P-DIRECT)

Controlled-access

(Type I)

hum0060.v1

JGAS000075

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

v1:2018/04/03

NGS

(Exome)

Illumina

(HiSeq 2000)

65 recurrent / metastatic breast cancer patients

(Japanese)

Yoshio Miki

(P-DIRECT)

Controlled-access

(Type I)

hum0061.v1

JGAS000057

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

v1:2017/02/20

NGS

(Exome)

Illumina

(HiSeq 2000)

Siblings developed multiple primary lung cancers

(Japanese)

Kikuya Kato

Controlled-access

(Type I)

hum0064.v1

JGAS000061

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

v1:2016/08/26

Direct sequencing

TaqMan

qRT-PCR

COBRA

cDNA microarray

Clinical data

Treatment data

Applied BioSystems

(3130 Genetic Analyzer)

Roche

(LightCycler 480II)

Agilent Technologies

(Whole Human Genome Microarray 4x44K)

[GENOME]

106 colorectal cancer

62 gastric cancer

173 lung cancer

[Retrospective]

313 colorectal cancer

166 gastric cancer

344 lung cancer

300 diabetes and nephropathy

357 cardiovascular disorder

49 respiratory dysfunction

(Japanese)

Masahiko Nishiyama

Controlled-access

(Type I)

hum0065.v1

JGAS000089

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

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

8 colorectal cancer

2 lung cancer

2 small cell carcinoma of uterine cervix 

(Japanese)

Masahiro Inoue

(P-DIRECT)

Controlled-access

(Type I)

hum0066.v1

JGAS000060

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

v1:2016/08/01

NGS

(Exome)

Illumina

(HiSeq 2000)

9 colorectal carcinomas

(Japanese)

Koshi Mimori

Controlled-access

(Type I)

hum0067.v1

JGAS000076

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

v1:2017/05/18

NGS

(Exome)

Illumina

(HiSeq 2000)

55 ovarian clear cell carcinoma patients

(Japanese)

Toru Sugiyama

(P-DIRECT)

Controlled-access

(Type I)

hum0068.v9

JGAS000065*

JGAS000349

JGAS000570

JGAS000677

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

v1:2017/07/10

v2:2020/10/19

v3:2021/12/14

v4:2022/03/23

v5:2022/12/27

v6:2023/02/10

v7:2023/06/19

v8:2023/09/22

v9:2024/04/10

NGS

(PCR amplicon Seq, WGS, RNA-seq, scDNA-seq, Target Capture, Visium Spatial Gene Expression)

Histological image

Multiplex Fluorescence Immunostaining

Xenium In Situ Gene Expression

Nanopore

(MinION, PromethION)

Illumina

(NovaSeq 6000, HiSeq 2000)

Akoya Biosciences

(PhenoCycler)

10x Genomics

(Xenium Analyzer)

8 + 21 + 74 + 20 lung adenocarcinoma patients

(Japanese)

Takashi Kono

Controlled-access

(Type I)

hum0069.v1

JGAS000064

RNA expression profiling of neuromuscular diseases and viral diseases

v1:2016/12/09

NGS

(small RNA-seq)

Illumina

(HiSeq 2500)

3 Neuromuscular disease (control group)

(Japanese)

Takanori Yokota

Controlled-access

(Type I)

hum0070.v1

JGAS000115

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

v1:2018/05/11

NGS

(Exome)

Illumina

(HiSeq 2000)

15 Birt-Hogg-Dube associated kidney cancer

(Japanese)

Masahiro Yao

(P-DIRECT)

Controlled-access

(Type I)

hum0072.v1

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

v1:2017/12/26

SNP-chip

Affymetrix

(SNP Array 6.0)

409 narcolepsy patients

1562 controls

(Japanese)

125 essential hypersomnia patients

562 controls

(Japanese)

Katsushi Tokunaga

Unrestricted-access

hum0074.v2

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

v1:2018/02/27

v2:2018/09/25

SNP-chip

Affymetrix

(SNP Array 6.0, Axiom ASI)

78 NVR, 64 VR, 51 SVR

107 patients with the decrease of PLT

196 patients without the decrease of PLT

94 HCV patients with an Hb reduction

209 HCV patients without Hb reduction

123 patients who developed HCC after eradication of HCV

333 patients who did not develop HCC after eradication of HCV

(Japanese)

Yasuhito Tanaka

Unrestricted-access

hum0075.v3

Search for susceptibility genes to hepatitis virus B-related diseases

v1:2017/09/25

v2:2019/02/19

v3:2022/05/27

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)

329 patients with chronic HBV infection

318 healthy controls

(Thailander)

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

hum0079.v1

JGAS000068

Genetic analysis in neurodegeneraive disorders

v1:2022/02/18

NGS

(RNA-seq)

Illumina

(HiSeq 2500)

53 inclusion body myositis patients

6 polymyositis patients

9 controls

(Japanese)

Jun Goto

(Genome Science)

Controlled-access

(Type I)

hum0082.v2

JGAS000120

Genome-wide analysis of SNPs in Healthy Japanese

v1:2017/09/26

v1:2017/10/03

SNP-chip

Control Set

Affymetrix

(SNP Array 6.0, Axiom ASI)

419 Participants

(Japanese)

Katsushi Tokunaga

Unrestricted-access

Controlled-access

(Type I)

hum0083.v2

JGAS000070

JGAS000488

Genome-wide analysis for biomarker exploration (lung cancer)

v1:2016/10/28

v2:2022/01/24

NGS (CAGE-seq)

Illumina

(HiSeq 2500)

lung cancer: 97 + 38 cases

malignant pleural mesothelioma: 10 cases

(Japanese)

Yoshihide Hayashizaki

Controlled-access

(Type I)

hum0085.v2

JGAS000108

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

Genomic analysis of environment-associated tumors

v1:2017/10/16

v1:2018/09/25

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

Illumina

(MiSeq, HiSeq 4000/X Ten)

72 malignant mesotheliomas

(Japanese, Americans)

Masaki Ohmuraya

Controlled-access

(Type I)

hum0086.v3

JGAS000073
(JGA000074)

JGAS000107
(JGA000117)

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

v1:2017/09/25

v2:2017/12/26

v3:2018/06/26

NGS

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

Illumina

(HiSeq 1500/2500)

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

(Japanese)

Hiroyuki Sasaki

(IHEC)

Controlled-access

(Type I)

hum0088.v2

JGAS000077

JGAS000096

Global analysis of TGF-beta family signaling in cancer cells

v1:2019/02/08

v2:2019/09/10

NGS

(RNA-seq, WGS)

Illumina

(Genome Analyzer IIx)

Thermo Fisher Scientific

(Ion Proton)

2 glioblastomas

(Japanese)

Kohei Miyazono

Controlled-access

(Type I)

hum0090.v1

JGAS000078

JGAS000079

JGAS000080

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

(COC series)

v1:2016/11/18

NGS

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

Illumina

(HiSeq 2000/2500)

12 normal human absorptive epithelial cells

(Japanese)

Yae Kanai

(IHEC)

Controlled-access

(Type I)

hum0091.v1

JGAS000082

JGAS000165

JGAS000081

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

(GAC series)

v1:2021/03/12

NGS

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

Illumina

(HiSeq 2000/2500)

14 Normal human foveolar epithelial cells of the stomach

(Japanese)

Yae Kanai

(IHEC)

Controlled-access

(Type I)

hum0094.v11

JGAS000095

JGAS000105

JGAS000113

JGAS000128

JGAS000215

JGAS000270

JGAS000297

JGAS000335

JGAS000360

JGAS000534

Genomic and epigenomic analysis of different types of cancer

v1:2017/09/04

v2:2018/01/22

v3:2019/02/12

v4:2020/08/14

v5:2020/10/26

v6:2021/01/29

v7:2021/07/02

v8:2021/10/22

v9:2021/10/26

v10:2022/05/23

v11:2022/11/08

NGS

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

Illumina

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

10x Genomics

(Chromium Controller)

PacBio

(Sequel)

68 breast cancer patients

43 + 126 lung adenocarcinoma patients

150 + 173 colorectal cancers

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

64 desmoid tumor patients

35 pulmonary pleomorphic carcinoma patients

67 salivary duct carcinoma patients

(Japanese)

Hiroyuki Mano

Controlled-access

(Type I)

hum0095.v1

JGAS000092

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

v1:2018/07/30

NGS

(Exome)

Illumina

(HiSeq 2500)

10 cases of colorectal adenomas or PCRCs

(Japanese)

Koshi Mimori

Controlled-access

(Type I)

hum0096.v2

JGAS000090

JGAS000138

Comprehensive analysis of genetic alterations in hematological malignancies

v1:2017/05/25

v2:2019/11/18

NGS

(RNA-seq)

Methylation array

Illumina

(HiSeq 2500, MethylationEPIC)

123 pediatric T-ALL patients

(Japanese)

Junko Takita

Controlled-access

(Type I)

hum0097.v1

JGAS000094

Cytogenetic analysis of hematopoietic cells in bone marrow failure syndrome

v1:2018/05/25

NGS

(Exome)

Illumina

(HiSeq 2500)

5 patients with aplastic anemia with uniparental disomy in 6p

(Japanese)

Shinji Nakao

(Genome Science)

Controlled-access

(Type I)

hum0099.v1

JGAS000085

Expression quantitative trait loci analysis using human immune cells

v1:2017/04/24

NGS

(RNA-seq)

SNP-chip

Illumina

(HiSeq 2500, Infinium OmniExpressExome)

105 healthy volunteers

(Japanese)

Kazuhiko Yamamoto

Unrestricted-access

Controlled-access

(Type I)

hum0101.v1

JGAS000098

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

v1:2018/05/11

NGS

(Target Capture)

Illumina

(MiSeq)

2 patients with primary immunodeficiency

(Japanese)

Yasumasa Iwatani

Controlled-access

(Type I)

hum0103.v4

JGAS000109

JGAS000389

Genome sequencing analysis for biliary tract cancer

v1:2018/02/27

v2:2019/06/21

v3:2021/07/13

v4:2022/01/18

NGS

(WGS, Exome, RNA-seq)

Illumina

(HiSeq 2000/2500, NovaSeq 6000)

98 + 121 biliary tract cancers

4 normal gallbladders

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0106.v1

JGAS000139

Development of the prevention and therapy of CRC using patient derived culture tissues.

v1:2022/09/05

NGS

(scRNA-seq)

Illumina

(HiSeq 2500)

3 patients with colorectal cancer

(patient derived culture tissues)

(Japanese)

Ryoji Yao

(Genome Science)

Controlled-access

(Type I)

hum0107.v2

JGAS000099

JGAS000218

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

v1:2017/10/02

v2:2020/06/01

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/4000)

4 patients with Gorlin syndrome

(Japanese)

Toshifumi Azuma

Controlled-access

(Type I)

hum0108.v1

JGAS000111

Search for new susceptibility genetic factors associated with psychiatric disorders

v1:2017/06/26

Methylation array

Illumina

(HumanMethylation450)

48 panic disorder patients

48 healthy controls

(Japanese)

Katsushi Tokunaga

Controlled-access

(Type I)

hum0111.v3

JGAS000103

JGAS000141

JGAS000242

Analysis of gastric cancer genome and its clinicopathological significance

v1:2017/07/31

v2:2019/05/31

v3:2021/02/19

NGS

(RNA-seq,

Amplicon-seq)

Illumina

(HiSeq 2000, MiSeq)

30 diffuse-type gastric carcinomas

60 + 15 gastric carcinomas

(Japanese)

Shumpei Ishikawa

Controlled-access

(Type I)

hum0112.v1

JGAS000112

(JGA000122)

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

v1:2017/12/14

NGS

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

Illumina

(HiSeq 1500/2500)

2 trophoblast stem cells

(Japanese)

Takahiro Arima

Controlled-access

(Type I)

hum0113.v3

JGAS000119

JGAS000142

JGAS000318

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

v1:2020/04/24

v2:2021/07/30

v3:2022/07/29

NGS

(CAGE-seq)

Illumina

(HiSeq 2500)

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

iPS derived neurons: 3 PD samples and 3 controls

(Japanese)

Piero Carninci

Controlled-access

(Type I)

hum0114.v3

DRA007411

JGAS000314

Research on statistical genetics using B cell lines of Japanese ancestry

v1:2017/12/18

v2:2019/04/12

v3:2021/08/10

SNP-chip

NGS

(Target Capture)

Illumina

(HumanCoreExome, MiSeq, HiSeq X Ten, NovaSeq)

282 psoriasis patients

426 controls

1,173 samples

(Japanese)

Yukinori Okada

Unrestricted-access

Controlled-access

(Type I)

hum0115.v1

JGAS000121

DRA006296

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

v1:2020/05/15

NGS

(RNA-seq)

Microarray

Illumina

(HiSeq 2000/2500)

Agilent Technologies

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

TF-hESCs derived from SEES3

(Cell-line)

Minoru S.H. Ko

Unrestricted-access

Controlled-access

(Type I)

hum0116.v1

JGAS000122

Development of hunanized mice for human immunity research

v1:2020/11/20

NGS

(Target Capture)

Illumina

(HiSeq 1500/2500)

118 AMLs

(Japanese)

Fumihiko Ishikawa

Controlled-access

(Type I)

hum0117.v1

JGAS000125

Epigenetics analysis of neurodegenerative diseases

v1:2017/12/11

Methylation array

Illumina

(HumanMethylation450)

30 Alzheimer's disease patients

30 healty controls

(Japanese)

Atsushi Iwata

Controlled-access

(Type I)

hum0118.v1

JGAS000124

Genome-wide analysis for biomarker exploration (endometrial cancer)

v1:2017/12/11

NGS (CAGE-seq)

Sanger-seq

Illumina

(HiSeq 2500)

Thermo Fisher Scientific

(3500 Genetic Analyzer)

17 endometrial cancer patients

(Japanese)

Yoshihide Hayashizaki

Controlled-access

(Type I)

hum0119.v1

JGAS000126

Analysis for mechanism of onset and progress for NASH

v1:2019/01/31

SNP-chip

Illumina

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

902 NAFLDs

7672 healty controls

(Japanese)

Fumihiko Matsuda

Controlled-access

(Type I)

hum0120.v4

JGAS000221

DRA011183

DRA011184

DRA011185

E-GEAD-396

DRA010902

JGAS000549

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

v1:2020/04/03

v2:2020/10/30

v3:2021/12/06

v4:2022/07/29

NGS

(Exome, RNA-seq, Target Capture, WGBS)

Methylation array

Illumina

(HiSeq 2500, iScan, HiSeq X Ten)

10 + 25 + 10 colorectal cancers

16 gastric cancers

16 breast cancers

(Japanese)

Koshi Mimori

Unrestricted-access

Controlled-access

(Type I)

hum0122.v1

DRA006622

DRA007336

DRA008459

E-GEAD-311

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

v1:2020/01/14

NGS

(WGS)

SNP-chip

Illumina

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

human iPS cells and their parental cells: total 27 samples

(Cell-line)

Ryoko Araki

Unrestricted-access

hum0124.v1

JGAS000129

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

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

3 EGFR-mutant lung cancers

(Japanese)

Toshiaki Kikuchi

(P-DIRECT)

Controlled-access

(Type I)

hum0125.v1

JGAS000127

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2018/11/05

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

3 Crohn's diseases

4 Colorectal cancers (normal cells)

(Japanese)

Shimon Sakaguchi

Controlled-access

(Type I)

hum0126.v2

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

v1:2018/04/27

v2:2020/09/01

SNP-chip

Affymetrix

(Japonica Array v1/v2)

224 + 3,206 Childhood Idiopathic Nephrotic Syndrome patients

419 + 987 healthy controls

(Japanese)

Kazumoto Iijima

Unrestricted-access

hum0127.v3

JGAS000130

JGAS000274

JGAS000604

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

v1:2020/04/14

v2:2021/03/08

v3:2024/01/22

NGS

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

Microarray

Methylation array

Thermo Fisher Scientific

(Ion Proton)

Agilent Technologies

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

Illumina

(NovaSeq 6000, Infinium MethylationEPIC array, iScan System)

91 cancer patients with hypermutator tumors harborig POLE mutations

5143 + 7 cancer patients

(Japanese)

Ken Yamaguchi

Controlled-access

(Type I)

hum0128.v1

JGAS000153

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

v1:2018/10/29

NGS

(RNA-seq)

Illumina

(HiSeq 2000)

6 chronic rhinosinusitis with nasal polyps

(Japanese)

Shigeharu Fujieda

Controlled-access

(Type I)

hum0129.v1

JGAS000131

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

v1:2018/04/06

NGS

(ChIP-seq)

Illumina

(HiSeq 2500)

2 CHARGE syndrome patients

(Japanese)

Hideyuki Okano

Controlled-access

(Type I)

hum0130.v3

JGAS000150

JGAS000289

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

v2:2022/09/27

v3:2024/06/17

NGS

(Exome, Target Capture, RNA-seq, scRNA-seq)

Illumina

(HiSeq 1500/2000/2500/3000, MiSeq)

20 + 14 POEMS syndromes

4 + 5 MMs

5 + 2 MGUSs

4 + 3 lymphomas without BM invasion

(Japanese)

Emiko Sakaida

Controlled-access

(Type I)

hum0131.v1

JGAS000132

The epigenetics of neurodevelopmental disorders

v1:2018/11/20

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion Proton)

6 Williams syndromes

8 healthy contorols

(Japanese)

Ryo Kimura

Controlled-access

(Type I)

hum0132.v1

JGAS000137

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

v1:2018/09/07

NGS

(WGS)

Illumina

(HiSeq 2500)

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

(Vietnamese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0133.v1

JGAS000086

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

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

75 gastric cancers

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-access

(Type I)

hum0134.v1

JGAS000087

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

v1:2018/04/06

NGS

(Exome)

Illumina

(HiSeq 2000)

60 B cell lymphomas

(Japanese)

Toshiharu Yamaguchi

(P-DIRECT)

Controlled-access

(Type I)

hum0136.v3

JGAS000341

Construction of integrated clinical genome database regarding hepatitis B related diseases

v1:2018/05/22

v2:2021/03/05

v3:2021/10/01

SNP-chip

Affymetrix

(Axiom ASI)

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

555 individuals vaccinated with a HB vaccine (Heptavax)

(Japanese)

Masashi Mizokami

Unrestricted-access

Controlled-access

(Type I)

hum0137.v1

JGAS000144

a multicenter study of susceptibility genes to type 1 diabetes

v1:2018/12/21

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

32 type 1 diabetes patients

(Japanese)

Hiroshi Ikegami

Controlled-access

(Type I)

hum0138.v2

JGAS000134

Clonal structure and oncogenic potential of liver cirrhosis tissues

v1:2020/07/31

v2:2021/03/26

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/4000)

Liver cirrhosis: 10 cases

Hepatocellular carcinoma: 4 cases

7 healthy donors

(Japanese)

Atsushi Takai

Controlled-access

(Type I)

hum0139.v1

JGAS000136

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

v1:2018/07/10

NGS

(Exome)

Illumina

(HiSeq 1500)

1 RALD patient

(Japanese)

Makoto Otsu

Controlled-access

(Type I)

hum0140.v1

JGAS000158

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

v1:2019/11/19

NGS

(Exome)

Illumina

(HiSeq 2000)

74 rectal cancer treated with preoperative chemoraidotherapy

(Japanese)

Takashi Akiyoshi

Controlled-access

(Type I)

hum0141.v1

JGAS000135

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2019/05/09

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

Head and neck cancer: 4 cases

(Japanese)

Shimon Sakaguchi

Controlled-access

(Type I)

hum0144.v1

JGAS000147

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

v1:2020/01/10

NGS

(RNA-seq),

Methylation array,

SNP array

Illumina

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

Affymetrix

(Human Mapping 250K Nsp, CytoScan HD)

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

(Japanese)

Junko Takita

Controlled-access

(Type I)

hum0145.v1

JGAS000222

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

v1:2020/04/03

NGS

(Target Capture)

Illumina

(HiSeq 2500)

10 colorectal cancers

(Japanese)

Koshi Mimori

Controlled-access

(Type I)

hum0146.v1

DRA007187

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

v1:2019/02/19

NGS

(RRBS)

Illumina

(HiSeq 2500)

5 SRS patients born after ART

5 spontaneously conceived SRS patients

10 spontaneously conceived children

(Japanese)

Takahiro Arima

Unrestricted-access

hum0147.v3

JGAS000145

JGAS000312

JGAS000454

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2020/05/25

v2:2022/02/18

v3:2023/05/08

NGS

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

Thermo Fisher Scientific

(Ion S5)

Illumina

(HiSeq 2500/3000/4000, NovaSeq 6000)

4 + 1 healty donors

7 + 3 cancer patients

(Japanese)

Shimon Sakaguchi

Controlled-access

(Type I)

hum0148.v1

JGAS000149

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

v1:2019/06/20

NGS

(RNA-seq)

Illumina

(Genome Analyzer IIx)

67 renal cell carcinomas

(Japanese)

Takeshi Yuasa

Controlled-access

(Type I)

hum0152.v2

JGAS000182

JGAS000529

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

v2:2022/11/15

NGS

(WGS, Exome, RNA-seq)

Illumina

(HiSeq 2500, NovaSeq 6000)

Dedifferentiated liposarcoma: 37 cases

lipoblastoma-like tumor of the vulva: 1 case

(Japanese)

Hitoshi Ichikawa

Controlled-access

(Type I)

hum0153.v1

JGAS000177

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

v1:2019/09/20

NGS

(Exome, RNA-seq, Target Capture)

Illumina

(HiSeq 2500, MiSeq)

28 Dedifferentiated liposarcoma patients

36 Tendon sheath giant cell tumor patient

(Japanese)

Koichi Matsuda

Controlled-access

(Type I)

hum0156.v1

JGAS000227

Integrative genetic analysis using next generation sequencer reveals mechanisms of resistance to chemoradiotherapy for esophageal cancer

v1:2021/07/30

NGS

(Exome)

Illumina

(HiSeq 2500)

33 esophageal cancer patients

(Japanese)

Koshi Mimori

Controlled-access

(Type I)

hum0157.v1

JGAS000164

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

v1:2019/08/19

NGS

(Target Capture)

Illumina

(NextSeq)

183 cancer patients

(Japanese)

Kohei Miyazono

Controlled-access

(Type I)

hum0158.v3

JGAS000151

Genome sequencing analysis for liver cancer

v1:2018/10/22

v2:2019/06/21

v3:2021/07/13

NGS

(WGS, RNA-seq)

Illumina

(HiSeq 2000, Genome Analyzer IIx, NovaSeq 6000)

263 liver cancers

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0159.v2

JGAS000157*

Genome sequencing analysis for colorectal cancer

v1:2021/06/01

v2:2022/12/27

NGS

(WGS)

Illumina

(Hiseq 2000)

10 colorectal cancers

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0160.v2

JGAS000155

Genome sequencing analysis for esophageal squamous cell carcinoma

v1:2019/05/28

v2:2021/07/13

NGS

(WGS)

Illumina

(HiSeq 2000/2500/X Five)

20 esophageal squamous cell carcinomas

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0161.v2

JGAS000156*

Genome sequencing analysis for hepatoblastoma

v1:2021/06/04

v2:2022/12/27

NGS

(WGS)

Illumina

(Hiseq 2500)

33 hepatoblastomas

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0163.v3

Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology

v1:2018/12/14

v2:2021/02/09

v3:2023/04/21

NGS

(Target Capture)

SNP-chip

Illumina

(MiSeq, Infinium OmniExpressExome)

990 patients with psychiatric/neurological disorders and cancers

90 bullous pemphigoid cases

737 healthy controls

(Japanese)

Taisei Mushiroda

Unrestricted-access

hum0164.v1

JGAS000160

Tohoku Medical Megabank Organization cohort study

v1:2018/12/14

SNP-chip

Illumina

(Infinium OmniExpressExome-8)

9,187 participants

(Japanese)

Masao Nagasaki

Controlled-access

(Type I)

hum0165.v1

JGAS000162

Genetic analysis of familial myelodysplastic syndromes

v1:2019/05/07

NGS

(Exome)

Illumina

(HiSeq 2500)

2 patients of familial myelodysplastic syndromes

(Japanese)

Junji Koya

Controlled-access

(Type I)

hum0166.v2

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

v1:2019/07/30

v2:2024/01/25

SNP-chip

Affymetrix

(Japonica Array v1)

1221 + 2680 patients of Inflammatory bowel disease

(Japanese)

Yoichi Kakuta

Unrestricted-access

Controlled-access

(Type I)

hum0167.v1

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

v1:2019/07/23

SNP-chip

Illumina

(HumanOmniExpressExome-8, Human660W-Quad, HumanOmni2.5-8, HumanOmniExpress-12, HumanOmniExpress-24, HumanOmniExpressExome, HumanOmniExpress, HumanExome)

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

(Japanese)

Hirotaka Matsuo

Unrestricted-access

hum0168.v1

JGAS000169

Comprehensive genomic analyses of cancers

v1:2019/11/08

NGS

(Exome)

Illumina

(HiSeq 2500)

51 adenomyosis patients

(Japanese)

Masahito Kawazu

Controlled-access

(Type I)

hum0169.v2

JGAS000178

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

v1:2019/06/01

v2:2020/07/17

NGS

(Exome)

Illumina

(HiSeq 2500)

9 PCNSL patinets

(Japanese)

Tetsuya Yamamoto

Controlled-access

(Type I)

hum0173.v1

JGAS000171

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

v1:2019/04/23

NGS

(RRBS)

Illumina

(NextSeq)

human umbilical cords: 30 samples

(Japanese)

Chisato Mori

Controlled-access

(Type I)

hum0174.v6

JGAS000173

JGAS000580

JGAS000286

JGAS000505

JGAS000596

Building a Database of Genomic Structural Variants in Japanese population

v1:2020/10/06

v2:2020/11/27

v3:2023/06/29

v4:2023/07/06

v5:2023/07/10

v6:2023/12/28

NGS

(WGS)

PacBio

(Sequel, Sequel II)

10x Genomics

(Chromium Controller)

Nanopore

(PromethION)

Purified DNA from Japanese-origin B cell lines: 10 + 11 + 177 + 141 + 30 samples

Shinichi Morishita

Controlled-access

(Type I)

hum0175.v2

JGAS000174

JGAS000642

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

v2:2024/03/01

NGS

(Exome, Target Capture)

Illumina

(HiSeq 2000)

69 endometrial carcinomas

30 endometrial hyperplasia patients

(Japanese)

Nobuhiro Takeshima

Controlled-access

(Type I)

hum0176.v1

JGAS000172

Comprehensive sequencing analyses of uterine and ovarian carcinosarcoma

v1:2019/10/02

NGS

(Exome, Target Capture)

Illumina

(HiSeq 2000)

92 uterine carcinosarcomas

17 ovarian carcinosarcomas

(Japanese)

Seiichi Mori

Controlled-access

(Type I)

hum0177.v1

JGAS000197

Genetic analysis assciated with malignance of brain tumor

v1:2020/04/27

NGS

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

Illumina

(HiSeq X Ten, NovaSeq 6000)

14 malignant gliomas

(Japanese)

Takashi Ito

Controlled-access

(Type I)

hum0179.v1

JGAS000186

DRA009794

Shotgun metagenome analysis of oral microbiome in MRONJ and healthy individuals

v1:2020/04/03

Metagenome

Nanopore

(PromethION)

Illumina

(HiSeq)

4 healthy individuals

(Japanese)

Koji Yahara

(Genome Science)

Unrestricted-access

Controlled-access

(Type I)

hum0180.v1

JGAS000170

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

v1:2021/03/12

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion Proton)

Familial Dysautonomia: 2 cases

Masahiko Ajiro

Controlled-access

(Type I)

hum0181.v1

Aging of steroid production in the adrenal bland.

v1:2019/09/25

Immunohistochemistry

Dako

(Autostainer Link 48)

85 anatomical cases who were more than 50 years old

(Japanese)

Koshiro Nishimoto

Unrestricted-access

hum0182.v5

JGAS000180

DRA008482

JGAS000516

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

v1:2019/06/20

v2:2020/05/12

v3:2021/01/06

v4:2021/11/12

v5:2022/05/27

NGS

(WGS, RNA-seq)

Nanopore

(MinION)

Illumina

(HiSeq 2000, Genome Analyzer IIx)

liver cancer (normal cell): 174+42 case

liver cancer (tumor tissue): 11+42 cases

HapMap: 1 sample

(Japanese)

Breast cancer: 1 sample

(Cell-line)

Akihiro Fujimoto

Unrestricted-access

Controlled-access

(Type I)

hum0184.v2

JGAS000239

Construction of Japanese Whole-Genome database

v1:2020/09/01

v2:2022/02/18

NGS

(WGS)

Illumina

(HiSeq 2500, NovaSeq 6000)

4,566 general residents

(Japanese)

Masayuki Yamamoto

Controlled-access

(Type II)

hum0187.v2

JGAS000194

JGAS000233

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

v1:2020/05/12

v2:2021/05/31

NGS

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

Illumina

(MiSeq, HiSeq 2500, HumanMethylation450)

243 + 160 hepatocellular carcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-access

(Type I)

hum0188.v1

JGAS000179

Exploration for molecular targets in gastric cancer cell lines

v1:2019/06/28

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

2 gastric cancer cell lines

(Cell-line)

Hiroyuki Mano

Controlled-access

(Type I)

hum0191.v1

DRA008575

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

v1:2020/06/05

NGS

(RNA-seq)

Illumina

(HiSeq 1500/4000)

Pancreatic cancer: 17 cases

(Japanese)

Kazuhiro Kakimi

Unrestricted-access

hum0192.v1

JGAS000196

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

v1:2021/04/23

NGS

(Target Capture)

Illumina

(NovaSeq 6000)

Colon cancer: 20 cases

(Japanese)

Masaki Nakamura

Controlled-access

(Type I)

hum0194.v1

JGAS000189

Molecular mechanisms of drug resistance in cancer

v1:2020/05/11

NGS

(Target Capture)

Illumina

(MiSeq)

2 lung adenocarcinomas

(Japanese)

Ryohei Katayama

Controlled-access

(Type I)

hum0195.v3

JGAS000190

JGAS000234

JGAS000269

Comprehensive genetic analysis of gastrointestinal and hepatobiliary tumor

v1:2021/03/26

v2:2022/02/28

v3:2022/03/18

NGS

(WGS, Exome, RNA-seq, Target Capture)

Illumina

(HiSeq 4000, NovaSeq 6000)

Thermo Fisher Scientific

(Ion Proton)

5 nodule-in-nodule hepatocellular carcinomas

20 liver cirrhosis and hepatocellular carcinomas after hepatitis C virus eradication

3 hepatitis C virus positive cirrhosis and hepatocellular carcinomas

2 hepatitis C virus negative hepatocellular carcinomas

42 + 1 patients with gastric cancer and 3 patients with gastric submucosal tumor

(Japanese)

Atsushi Takai

Controlled-access

(Type I)

hum0196.v1

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

v1:2019/12/20

SNP-chip

Illumina

(HumanOmniExpress-24, HumanOmniExpressExome-8)

Suicide: 746 cases

Non-suicide: 14,049 cases

(Japanese)

Akitoyo Hishimoto

Unrestricted-access

hum0197.v20

JGAS000205

JGAS000260

JGAS000316

JGAS000415

JGAS000504

JGAS000530

JGAS000531

JGAS000543

DRA014184

DRA014186

DRA014188

DRA014191

DRA014192

JGAS000593

JGAS000600

Elucidation of disease state by multi-layered omics analysis

v1:2019/11/15

v2:2020/11/27

v3:2021/03/22

v4:2021/12/10

v5:2021/12/21

v6:2022/02/08

v7:2022/05/23

v8:2022/06/03

v9:2022/06/10

v10:2022/06/16

v11:2022/07/21

v12:2022/12/01

v13:2023/02/14

v14:2023/02/16

v15:2023/03/29

v16:2023/06/06

v17:2023/06/27

v18:2023/10/02

v19:2024/05/29

v20:2024/05/30

Metagenome

SNP-chip

NGS

(WGS, RNA-seq, scRNA-seq)

Illumina

(HiSeq 2500/3000/X Ten, NovaSeq 6000, Asian Screening Array, HumanOmniExpressExome, HumanOmniExpress, HumanExome,  iCOGS OncoArray)

Applied Biosystems

(UK BiLEVE Axiom Array, UK Biobank Axiom Array)

Thermo Fisher Scientific

(FinnGen1 ThermoFisher Array or other genotyping arrays)

95 + 103 + 227 + 30 + 141 + 136 + 88 + 5 + 524 Japanese individuals

BBJ: 180,215 individuals

UK biobank: 377,583 individuals

FinnGen: 136,000 + 224,352 individuals

BACC: 247,173 individuals

PRACTICAL: 140,254 individuals

Autoimmune pulmonary alveolar proteinosis: 198 cases

Control participants: 395

Ulcerative Colitis: 35 cases

Crohn's disease: 39 cases

Healthy controls: 40 individuals

Intracranial germ cell tumors: 133 cases

Control participants: 762

COVID-19: 30 + 43 cases

Healthy controls: 31 + 44 individuals

Healthy subjects: 73 individuals

Hunner-type interstitial cystitis: 144 cases

Type 2 diabetes: 27,642 cases (BBJ)

Control participants: 70,242 (BBJ)

Type 2 diabetes: 27,642 cases (UK biobank)

Control participants: 70,242 (UK biobank)

Recurrent pregnancy loss: 1,728 cases

(Japanese, British, Finnish)

Yukinori Okada

Unrestricted-access

Controlled-access

(Type I)

hum0199.v1

JGAS000198

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

v1:2020/06/29

NGS

(RNA-seq)

Illumina

(HiSeq 2500)

Prostate cancer: 25 cases

(Japanese)

Tetsuya Fujimura

Controlled-access

(Type I)

hum0200.v5

JGAS000202

JGAS000265

JGAS000290

JGAS000387

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

v1:2021/03/29

v2:2021/05/07

v3:2021/10/01

v4:2022/03/02

v5:2022/08/29

NGS

(Exome, WGS, Target Capture, Visium Spatial Gene Expression, semibulk RNA-seq, scRNA-seq)

CNV

Methylation analysis

Histological image

Illumina

(HiSeq 3000, NovaSeq 6000)

10x Genomics

(Chromium Controller)

Nanopore

(PromethION)

96 Ductal Carcinoma In Situ

4 Invasive Ductal Carcinoma

(Japanese)

Satoi Nagasawa

(Genome Science)

Controlled-access

(Type I)

hum0201.v7

JGAS000199

JGAS000237*

JGAS000256

JGAS000378

JGAS000350

JGAS000550

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

Transfer of existing samples and research using genomic information

Reseach of searching gene mutations in gastrointestinal chronic inflammatory diseases

v1:2019/12/20

v2:2020/10/06

v3:2020/11/20

v4:2021/11/19

v5:2022/06/06

v6:2022/08/05

v7:2022/12/27

NGS

(Exome, WGS, RNA-seq, ChIP-seq, scRNA-seq)

Illumina

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

gastrointestinal inflammatory disease: 29 cases

gastrointestinal inflammatory disease with neoplastic disease: 26 cases

control patients who underwent colonoscopy: 16 individuals

neoplastic disease: 23 + 1 + 4 + 2 + 3 cases

(Japanese)

Toshiro Sato

Controlled-access

(Type I)

hum0202.v1

JGAS000379

Study of genetic background and time course of congenital hearing loss to increase efficacy of auditory, speech, and language therapy.

v1:2022/09/09

NGS

(Exome)

Illumina

(HiSeq 2500/4000)

3 congenital hearing loss patients and their parents

(Japanese)

Tatsuo Matsunaga

Controlled-access

(Type I)

hum0203.v1

JGAS000206

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

v1:2020/06/01

NGS

(Target Capture)

Illumina

(HiSeq 2500)

154 patients with multiple myeloma

(Japanese)

Keizo Horibe

Controlled-access

(Type I)

hum0206.v1

JGAS000207

Establishment and characterization of cell lines derived from pregnancy related diseases

v1:2019/11/26

NGS

(PBAT-seq, RNA-seq)

Illumina

(HiSeq 1500/2500)

complete hydatidiform mole: 3 cases

(Japanese)

Takahiro Arima

Controlled-access

(Type I)

hum0207.v1

Analysis of gene polymorphism and gene expression in human immune cells

v1:2020/01/06

NGS

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

eQTL

Illumina

(HiSeq 2500, HiSeq series, Infinium OmniExpressExome)

rheumatoid arthritis: 30 cases

osteoarthritis: 30 cases

(Japanese)

Keishi Fujio

Unrestricted-access

hum0208.v1

JGAS000214

Comprehensive genetic analysis and database construction for head and neck cancer

v1:2020/01/20

NGS

(Exome)

Illumina

(HiSeq X Ten)

10 patients with cancer of the external auditory canal

(Japanese)

Takashi Nakagawa

Controlled-access

(Type I)

hum0209.v1

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

v1:2019/12/13

SNP-chip

Direct sequencing

Thermo Fisher Scientific

(GeneChip® Scanner 3000 7G)

Applied Biosystems

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

Rheumatoid arthritis: 166 cases

(Japanese)

Shunichi Kumagai

Unrestricted-access

hum0210.v1

JGAS000211

Comprehensive genomic analysis of hematological malignancies

v1:2020/04/06

NGS

(Exome)

Illumina

(NextSeq 500)

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

(Japanese)

Kazuya Shimoda

Controlled-access

(Type I)

hum0213.v1

JGAS000238

Demographic History and Local Adaptation in Asian Population

v1:2022/07/15

NGS

(WGS)

Illumina

(HiSeq X Ten)

60 Baltis individuals

Min-Sheng Peng

Controlled-access

(Type I)

hum0214.v9

JGAS000220

JGAS000296

E-GEAD-397

E-GEAD-398

E-GEAD-420

JGAS000486

JGAS000598

JGAS000485

JGAS000626

JGAS000627

JGAS000648

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

v1:2020/10/09

v2:2021/03/05

v3:2021/04/28

v4:2022/01/21

v5:2022/03/09

v6:2022/08/25

v7:2023/03/28

v8:2023/07/06

v9:2024/02/08

NGS

(RNA-seq, scRNA-seq)

eQTL

BCR repertoire analysis

Illumina

(HiSeq 2500, NovaSeq 6000)

10 Immune-mediated diseases: 544 cases

185 normal controls

(Japanese)

Keishi Fujio

Unrestricted-access

Controlled-access

(Type I)

hum0215.v1

JGAS000532

Whole genome and RNA analysis of geriatric disease in Japanese

v1:2022/09/28

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

Alzheimer's disease: 317 cases

Mild cognitive impairment: 432 cases

107 Healthy controls

(Japanese)

Kouichi Ozaki

Controlled-access

(Type I)

hum0216.v4

JGAS000216

JGAS000244

JGAS000279

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

Investigation of anti-tumor immunological response in solid tumors

v1:2020/02/07

v2:2020/09/25

v3:2021/03/29

v4:2021/04/13

NGS

(Exome)

Illumina

(HiSeq 2500, NovaSeq 6000)

17 patients with lung adenocarcinoma

26 + 23 patients with gastric cancer

9 patients with lung cancer

5 patients with malignant melanoma

7 patients with cololectal cancer

(Japanese)

Hiroyoshi Nishikawa

Controlled-access

(Type I)

hum0217.v1

JGAS000217

Identification of genetic alterations predicting cancer progression from colorectal polyps

v1:2020/03/02

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Torrent)

50 colorectal serrated lesions

(Japanese)

Takeshi Sawada

Controlled-access

(Type I)

hum0218.v1

E-GEAD-344

Gene expression analysis in systemic sclerosis

v1:2020/10/09

NGS

(scRNA-seq)

Illumina

(HiSeq)

Systemic sclerosis: 3 cases

(Japanese)

Keishi Fujio

Unrestricted-access

hum0220.v1

JGAS000223

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

v1:2020/06/02

LC-MS/MS

Sciex

(TripleTOF 5600)

3 heathy individuals

(Japanese)

Sumio Ohtsuki

(AMED-Metabolites)

Controlled-access

(Type I)

hum0221.v1

JGAS000225

Genetic study using human disease-specific iPS cells

v1:2023/07/28

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

iPS cells derived from Fabry disease patients: 3 samples

(Cell-line)

Yohei Hayashi

Controlled-access

(Type I)

hum0222.v1

JGAS000224

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

v1:2020/03/13

NGS

(Target Capture)

Illumina

(HiSeq 2000)

115 breast cancer patients

(Japanese)

Shinji Ohno

Controlled-access

(Type I)

hum0223.v1

JGAS000232

The analyses of gene mutations in hematology malignancy

v1:2020/09/01

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

7 patients with multiple myeloma

(Japanese)

Yasuhito Terui

Controlled-access

(Type I)

hum0225.v1

JGAS000226

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

v1:2020/05/08

NGS

(Target Capture)

Illumina

(HiSeq 2500/3000)

HAM: 21 cases

(Japanese)

Makoto Yamagishi

Controlled-access

(Type I)

hum0226.v1

JGAS000229

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

v1:2021/06/04

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

141 stomach adenocarcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-access

(Type I)

hum0227.v1

JGAS000228

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

v1:2021/06/04

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

102 stomach adenocarcinomas

(Japanese)

Hiroyuki Aburatani

Controlled-access

(Type I)

hum0229.v1

JGAS000230

Identification and characterization of molecular markers in aging and neuronal disorders

v1:2020/05/15

NGS

(scRNA-seq)

Illumina

(HiSeq 2500)

7 supercentenarians

2 family members

2 unrelated donors

(Japanese)

Piero Carninci

Controlled-access

(Type I)

hum0232.v1

JGAS000231

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

v1:2020/06/01

NGS

(Target Capture)

Illumina

(HiSeq 2000)

10 gastric cancer patients

(Japanese)

Satsoshi Nishizuka

Controlled-access

(Type I)

hum0233.v1

JGAS000236

Paediatric Hepatic International Tumour Trial (JPLT4: PHITT)

v1:2021/05/31

NGS

(Exome, RNA-seq, WGBS)

SNP-chip

Methylation array

Illumina

(HiSeq 2500, HumanMethylation450)

Affymetrix

(SNP Array 6.0)

165 pediatric hepatoblastomas

(Japanese)

Eiso Hiyama

Controlled-access

(Type I)

hum0235.v1

JGAS000272

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

v1:2021/04/06

Neuroimage

Clinical Info

MRI Scanners (9 Models)

PET Scanners (11 Models)

25 healthly controls

3 preclinical AD

7 early MCI

5 late MCI

(Japanese)

Hiroyuki Shimada

Unrestricted-access

Controlled-access

(Type I)

hum0236.v1

JGAS000245

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

v1:2020/12/14

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500)

Nanopore

(MinION)

7 non-small cell lung cancer patients

(Japanese)

Tetsuya Nakatsura

Controlled-access

(Type I)

hum0237.v1

Whole genome and RNA analysis of geriatric disease in Japanese

v1:2021/03/05

SNP-chip

Affymetrix

(Japonica Array, SNP Array 6.0)

Alzheimer's disease: 3,962 cases

4,074 controls

(Japanese)

Kouichi Ozaki

Unrestricted-access

hum0238.v1

JGAS000240

Development of personalized medicine

v1:2020/07/28

NGS

(WGS)

Illumina

(HiSeq 2500)

3 participants of BBJ

(Japanese)

Yukihide Momozawa

Controlled-access

(Type I)

hum0239.v1

JGAS000241

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

v1:2020/07/27

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

19 patients with urothelial bladder cancer

(Japanese)

Yosuke Hirotsu

Controlled-access

(Type I)

hum0240.v1

JGAS000258

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

v1:2020/10/30

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Torrent)

28 PCNSL patinets

(Japanese)

Ryuya Yamanaka

Controlled-access

(Type I)

hum0242.v1

JGAS000243

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

v1:2021/01/05

NGS

(Target Capture)

Illumina

(HiSeq 2000)

12 colorectal cancer patients

(Japanese)

Satsoshi Nishizuka

Controlled-access

(Type I)

hum0243.v1

JGAS000253

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

v1:2020/11/20

NGS

(RNA-seq, CAGE-seq)

Illumina

(HiSeq 2500)

Cord blood: 24 individuals

Acute Myeloid Leukemia: 116 cases

(Japanese)

Fumihiko Ishikawa

Controlled-access

(Type I)

hum0245.v1

JGAS000276

Comprehensive Genome analysis of adult acute lymphoblastic leukemia (JALSG ALL202U-GWS)

v1:2022/10/25

NGS

(Target Capture)

Illumina

(HiSeq 2500)

46 patients with Ph-negative ALL

(Japanese)

Fumihiko Hayakawa

Controlled-access

(Type I)

hum0247.v1

JGAS000249

DRA010773

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

v1:2021/01/04

NGS

(Exome)

Illumina

(HiSeq 1500)

3 malignant melanoma patients

(Japanese)

Takashi Iwata

Unrestricted-access

Controlled-access

(Type I)

hum0248.v2

JGAS000259

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

v1:2020/10/30

v2:2020/11/06

NGS

(WGS)

PacBio (RS II)

Bionano (Irys, Saphyr)

Illumina (HiSeq 2500)

3 Japanese male individuals

(Japanese)

Masayuki Yamamoto

Unrestricted-access

Controlled-access

(Type II)

hum0249.v1

JGAS000248

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

v1:2020/09/01

NGS

(CAGE-seq)

Illumina

(NextSeq 500)

3 patients with hard tissue/connective tissue related diseases

(Japanese)

Toshifumi Azuma

Controlled-access

(Type I)

hum0250.v1

JGAS000277

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

v1:2021/03/29

Neuroimage

Clinical Info

MRI Scanners (1 Model)

PET Scanners (1 Model)

11 MCI

28 healthly controls

(Japanese)

Takeshi Iwatsubo

Controlled-access

(Type I)

hum0251.v1

JGAS000278

Phase II clinical trial of adult Philadelphia chromosome-negative precursor B-cell acute lymphocytic leukemia with combination chemotherapy

v1:2022/10/25

NGS

(RNA-seq, Target Capture)

Illumina

(HiSeq 2500)

153 patients with Ph-negative B-ALL

(Japanese)

Yoshihiro Hatta

Controlled-access

(Type I)

hum0252.v3

JGAS000301

JGAS000553

Study for molecular characteristics of adult T-cell leukemia-lymphoma and HTLV-1-associated diseases

v1:2021/07/12

v2:2023/12/06

v3:2024/03/04

NGS

(Target Capture, RNA-seq, scRNA-seq, WGS, scATAC-seq, ChIP-seq)

Illumina

(HiSeq 2500/3000, NovaSeq 6000, NextSeq 500)

MGI

(DNBSEQ-G400)

ATL: 6 + 4 + 6 cases (Japanese)

HTLV-1 infected carriers: 10 cases (Japanese)

CD4+ T cells from 3 + 1 healthy donors (Cell-line)

Makoto Yamagishi

Controlled-access

(Type I)

hum0254.v1

JGAS000257

Development of sequencing library preparation method from cell-free DNA in blood

v1:2021/09/24

NGS

(WGS)

Illumina

(MiSeq, HiSeq X Ten)

5 healthy individuals

(Japanese)

Fumihito Miura

Controlled-access

(Type I)

hum0257.v2

JGAS000262

JGAS000263

JGAS000264

JGAS000514

E-GEAD-414

E-GEAD-415

E-GEAD-416

E-GEAD-417

GSE202023

Development of culturing methods amplifying micro-specimens derived from human pancreas and biliary tract tissues

v1:2021/12/24

v2:2023/01/10

NGS

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

Illumina

(NovaSeq 6000, HiSeq 2500, NextSeq 500)

Pancreatic ductal adenocarcinoma: 17 cases

Intraductal papillary mucinous neoplasm: 6 cases

(Japanese)

Keisuke Tateishi

(Genome Science)

Unrestricted-access

Controlled-access

(Type I)

hum0261.v2

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

v1:2021/01/08

v2:2021/01/19

SNP-chip

Affymetrix

(Axiom ASI, Japonica Array v1)

1,953 PBCs and 3,690 healthy controls

(Japanese)

Minoru Nakamura

Unrestricted-access

hum0262.v1

JGAS000267

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

v1:2021/05/11

NGS

(RNA-seq)

Illumina

(HiSeq 1500/2500)

Lung Adenocarcinoma: 24 cases

(Japanese)

Katsuya Tsuchihara

Controlled-access

(Type I)

hum0263.v1

JGAS000292

Comprehensive analysis of the abnormality of the genes in juvenile myelomonocytic leukemia

v1:2023/07/24

NGS

(DREAM-seq)

Illumina

(HiSeq 2500)

Juvenile myelomonocytic Leukemia: 149 cases

(Japanese)

Yoshiyuki Takahashi

Controlled-access

(Type I)

hum0264.v2

JGAS000508

Elucidation of the pathogenesis and identification of susceptibility genes for sleep disorders by genetic and functional analyses.

v1:2022/02/07

v2:2022/02/28

SNP-chip

Affymetrix

(SNP Array 6.0)

Idiopathic hypersomnia: 129 cases

(Japanese)

Makoto Honda

Unrestricted-access

Controlled-access

(Type I)

hum0266.v1

JGAS000281

Elucidation of the pathogenesis of autoimmune dermatosis using patient samples.

v1:2022/12/27

NGS

(scRNA-seq)

Illumina

(NovaSeq 6000)

3 patients with pemphigus

3 healthy controls

(Japanese)

Shohei Egami

Controlled-access

(Type I)

hum0268.v1

JGAS000280

Direct and comprehensive identification of neoantigens using cancer tissues

v1:2021/04/09

NGS

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

Illumina

(NextSeq 500, NovaSeq 6000)

PacBio

(Sequel)

Human colon cancer cell line: 1 sample

(Cell-line)

Colon cancer: 6 patients

(Japanese)

Takayuki Kanaseki

Controlled-access

(Type I)

hum0269.v2

JGAS000295

JGAS000565

JGAS000566

JGAS000567

Sensitive gene analysis of hereditary cardiovascular disease

v1:2021/05/25

v2:2024/03/18

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2500/3000)

hereditary cardiovascular disease: 13 + 20 cases

(Japanese)

Yoshihiro Asano

Controlled-access

(Type I)

hum0270.v1

JGAS000282

Translational research for elucidating molecular and pathological abnormalities specific to bone and soft tissue tumors based on genomic and genetic analysis, and for developing new diagnostic and therapeutic strategies

v1:2022/05/19

NGS

(Target Capture)

Thermo Fisher Scientific

(Ion Proton)

16 pediatric Osteosarcoma patients

(Japanese)

Tsukasa Yonemoto

Controlled-access

(Type I)

hum0271.v1

JGAS000288

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

v1:2021/05/11

NGS

(Target Capture, Target RNA-seq)

Illumina

(MiSeq)

20 patients with neurofibromatosis type 1

(Japanese)

Yo Niida

Controlled-access

(Type I)

hum0272.v2

JGAS000285

Analysis of the immune status of melanoma and other skin tumors

v1:2021/12/20

v2:2022/02/07

NGS

(Exome, RNA-seq, scRNA-seq, scTCR-seq)

Illumina

(HiSeq 2500)

melanoma: 4 cases

(Japanese)

Takashi Inozume

Controlled-access

(Type I)

hum0273.v1

JGAS000300

A study of molecular pathology for carcinogenesis and progression of breast cancer

v1:2021/08/27

NGS

(Amplicon-seq)

Thermo Fisher Scientific

(Ion Proton)

2 patients of lobular carcinoma in situ with ductal carcinoma in situ

(Japanese)

Shinobu Masuda

Controlled-access

(Type I)

hum0274.v1

JGAS000294

Integrated analysis of selective mRNA export by mRNA export factors, UAP56 and URH49

v1:2022/04/22

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

HeLa cells with knockdown of the target genes: 20 samples

(Cell-line)

Kenichi Fujita

Controlled-access

(Type I)

hum0275.v1

JGAS000313

Comprehensive analysis of genetic abnormalities in solid tumors

v1:2021/08/16

NGS

(Exome)

Illumina

(NovaSeq 6000)

Nine subjects without Hp infection or gastric cancer (healthy population)

(Japanese)

Seishi Ogawa

Controlled-access

(Type I)

hum0276.v1

JGAS000308

Development of a general-purpose genetic diagnostic panel for Gorlin syndrome and its application to liquid biopsy

v1:2021/10/01

NGS

(Target Capture)

Illumina

(MiSeq)

12 patients with Gorlin syndrome

3 blood relatives

(Japanese)

Toshifumi Azuma

Controlled-access

(Type I)

hum0277.v3

JGAS000303

JGAS000564

Analysis of genes related to the oncogenesis, progression or effectiveness of drug therapies of urological tumors

v1:2022/09/09

v2:2023/04/18

v3:2023/05/10

NGS

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

Illumina

(NextSeq 500, HiSeq 2500, NovaSeq 6000/PE150)

renal cell carcinoma: 15 + 30 cases

sporadic oncocytoma: 7 cases

(Japanese)

Hisashi Hasumi

Controlled-access

(Type I)

hum0278.v1

JGAS000304

JGAS000305

Analysis of genome of breast cancer stem cells

v1:2022/07/07

NGS

(Exome, scRNA-seq)

Illumina

(HiSeq 3000, NovaSeq 6000)

Breast cancer: 5 cases

(Japanese)

Noriko Gotoh

Controlled-access

(Type I)

hum0279.v1

JGAS000307

Stratification of refractory malignant lymphoma by genomic/epigenomic analysis and immunohistochemistry and development of novel therapeutic approaches

v1:2022/09/05

NGS

(Target Capture)

Illumina

(NextSeq 550)

177 patients with diffuse large B-cell lymphoma

(Japanese)

Emiko Sakaida

Controlled-access

(Type I)

hum0280.v1

DRA012560

The research for the identification of neoantigen and tumor immune microenvironment in lung cancer

v1:2022/01/07

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

lung cancer: 113 cases

(Japanese)

Hirokazu Matsushita

Unrestricted-access

hum0284.v1

JGAS000309

Elucidation of the molecular mechanism that controls the transition from precancerous lesions to invasive cancer due to disruption of biological maintenance function

v1:2023/01/19

NGS

(scRNA-seq)

Illumina

(NovaSeq 6000)

Breast cancer: 4 cases

(Japanese)

Jun Nakayama

Controlled-access

(Type I)

hum0286.v2

JGAS000311

JGAS000523

Elucidation of molecular mechanism of NAFLD-HCC

v1:2022/09/12

v2:2022/11/15

NGS

(Visium Spatial Gene Expression, Target Capture)

Histological image

Illumina

(NovaSeq 6000)

Thermo Fisher Scientific

(Ion Proton)

55 hepatocellular carcinoma

(Japanese)

Takahiro Kodama

(Genome Science)

Controlled-access

(Type I)

hum0287.v3

JGAS000310

JGAS000573

JGAS000690

Genome sequence comparison of human iPS cell lines

v1:2021/11/02

v2:2023/03/29

v3:2024/05/01

NGS

(WGS)

Illumina

(HiSeq X)

Nanopore

(PromethION)

5 +1 +1 Human iPS cell lines

(Cell-line)

Shihori Yokobayashi

Controlled-access

(Type I)

hum0289.v1

JGAS000317

Mechanisms on relapse after allogeneic hematopoietic cell transplantation in CMML

v1:2022/09/09

NGS

(RNA-seq, Exome)

Methylation array

Illumina

(NovaSeq 6000, MethylationEPIC)

chronic myelomonocytic leukemia (CMML): 1 case

(Japanese)

Yu Akahoshi

Controlled-access

(Type I)

hum0290.v1

JGAS000321

Comprehensive analysis of interaction between human gene expression and environmental metagenomes

v1:2022/03/07

NGS

(WGS, scRNA-seq, TCR-seq, BCR-seq, CyTOF)

Illumina

(NovaSeq 6000)

10x Genomics

(Chromium Controller)

7 healthy volunteers

(Japanese)

Yutaka Suzuki

Controlled-access

(Type I)

hum0291.v2

JGAS000359

Elucidation of molecular mechanisms of tumorigenesis and development of diagnoses and treatments based on comprehensive genomic analyses in pancreatic tumors, duodenal tumors and biliary tumors

v1:2021/12/10

v2:2023/09/08

NGS

(WGS, Exome, RNA-seq)

Illumina

(HiSeq 2000/2500)

Pancreatic tumor: 57+6 cases

Duodenal tumor: 6+1 cases

Biliary tumors: 11 cases

(Japanese)

Shinichi Yachida

Controlled-access

(Type I)

hum0292.v1

JGAS000330

Development of blood-based biomarkers for precision medicine in castration-resistant prostate cancer

v1:2021/09/24

NGS

(Target Capture)

Illumina

(NovaSeq 6000)

100 CRPC patients

(Japanese)

Shusuke Akamatsu

Controlled-access

(Type I)

hum0293.v1

JGAS000320

Exploratory research of genetic factors that regulate the therapeutic sensitivity of hematopoietic malignancy

v1:2022/07/25

NGS

(WGS)

Illumina

(HiSeq X Ten)

BGI

(BGISEQ-500)

ATL: 7 cases

ATL cell line: 1 sample

(Japanese)

Takaomi Sanda

Controlled-access

(Type I)

hum0294.v1

JGAS000708

Single cell analysis of tumor-infiltrating T cells

v1:2024/05/29

NGS

(Exome, RNA-seq)

Illumina

(HiSeq X)

esophageal cancer: 28 cases

(Japanese)

Shogo Kumagai

Controlled-access

(Type I)

hum0297.v1

JGAS000348

Comprehensive study of color vision diversity

v1:2022/09/15

NGS

(WGS)

Illumina

(NovaSeq 6000)

Nanopore

(PromethION)

1 healthy donor

Chihiro Hiramatsu

Controlled-access

(Type I)

hum0299.v1

DRA012759

Analysis of chromosome background of cancerous mutations using a long read sequencer

v1:2022/09/15

NGS

(WGS)

Nanopore

(PromethION)

Healthy white B-Lymphocyte cell line HG002 (NA24385): 1 sample

(Cell-line)

Yutaka Suzuki

Unrestricted-access

hum0300.v1

JGAS000367

Whole-genome and whole-exome analyses of cancer

v1:2021/11/12

NGS

(Exome, RNA-seq)

Illumina

(HiSeq 2000/2500)

89 Esophageal squamous cell carcinomas

(Japanese)

Johji Inazawa

Controlled-access

(Type I)

hum0301.v1

JGAS000368

An integrative analysis study of genomic abnormalities and immune status in breast cancer patients and high-risk individuals (Immuno-Genome Atlas Project)

v1:2021/11/29

NGS

(Target Capture)

Illumina

(HiSeq 2500, NovaSeq 6000)

MGI

(DNBSEQ-G400)

26 patients with breast cancer

(Japanese)

Hiroyuki Mano

Controlled-access

(Type I)

hum0302.v2

JGAS000382

JGAS000683

iPS Cell Advanced Characterization and Development of modified iPS cells

v1:2022/09/05

v2:2024/03/18

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

iPS cells derived from patients with Wilson's disease: 6 samples

iPS cells derived from patients with juvenile nephron tabes (NPH1): 12 samples

iPS cells derived from healthy donors: 6+6 samples

(Cell-line)

Yohei Hayashi

Controlled-access

(Type I)

hum0304.v1

JGAS000370

Exome sequencing of human breast cancer tissues resistant to taxanes.

v1:2022/04/08

NGS

(Exome)

Illumina

(HiSeq 2000/2500)

6 breast cancers

(Japanese)

Yumi Wanifuchi-Endo

Controlled-access

(Type I)

hum0305.v1

JGAS000377

A multicenter study of biological and genetic manifestations of subsequent solid cancers after hematopoietic cell transplantation

v1:2021/11/29

NGS

(Exome)

Illumina

(NovaSeq 6000)

MGI

(DNBSEQ-G400)

14 de novo cancer patients

(Japanese)

Yoshihiro Inamoto

Controlled-access

(Type I)

hum0306.v1

JGAS000361

Cancer Genome Sequencing Analysis

v1:2021/10/15

NGS

(WGS)

Nanopore

(MinION)

9 liver cancers

(Japanese)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0307.v1

JGAS000416

Analysis for skin molecules in patients with atopic dermatitis No.2.

v1:2022/03/11

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

29 healthy male subjects

atopic dermatitis: 30 cases

(Japanese)

Takayoshi Inoue

Controlled-access

(Type I)

hum0308.v1

JGAS000417

Circadian rhythm of skin molecules.

v1:2022/03/11

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

10 healthy female subjects

(Japanese)

Takayoshi Inoue

Controlled-access

(Type I)

hum0309.v1

JGAS000418

Comparison between sebum and stratum corneum molecules.

v1:2022/03/11

NGS

(RNA-seq)

Thermo Fisher Scientific

(Ion S5)

10 healthy male subjects

(Japanese)

Takayoshi Inoue

Controlled-access

(Type I)

hum0311.v6

JGAS000412

JGAS000541

JGAS000561

Management of Biobank Japan and the investigation of disease biomarkers for the realization of personalized medicine

Discovery of disease makers from disease cohort network

v1:2021/11/30

v2:2022/07/28

v3:2022/09/08

v4:2023/04/24

v5:2023/07/27

v6:2024/05/22

SNP-chip

Metabolome

Illumina

(Asian Screening Array, HumanOmniExpressExome, HumanOmniExpress, HumanExome)

Bruker

(AVANCE IIIHD)

11,716 + 180,882 + 1,285 + 2,570 + 40,907 patients from BBJ 1st cohort

42,689 patients from BBJ 2nd cohort

ToMMo: 49,621 individuals

UK biobank: 456,327 individuals

FinnGen: 230,635 individuals

(Japanese, British, Finnish)

Koichi Matsuda

Controlled-access

(Type I)

hum0312.v1

DRA016393

DRA016394

DRA016395

DRA018714

Genetic study of complex diseases through comprehensive analysis of functional variants

v1:2024/06/17

NGS

(RNA-seq, Iso-seq)

Illumina

(NovaSeq 6000)

Nanopore

(MinION)

PacBio

(Sequel II/IIe)

immortalized B cell lines from healthy Japanese volunteers: 95 samples

(Cell-line)

Yuta Kochi

Unrestricted-access

hum0314.v1

JGAS000383

Analysis of the relationship between disease phenotype and genotype in patients with Alzheimer's disease

v1:2021/11/19

SNP-chip

Illumina

(Infinium OmniExpressExome-8)

102 patients with sporadic Alzheimer's disease

(Japanese)

Haruhisa Inoue

Controlled-access

(Type I)

hum0315.v2

JGAS000385

Comprehensive analysis of genetic alterations in hematological malignancies

v1:2022/01/14

v2:2022/07/28

NGS

(Exome, RNA-seq, scRNA-seq, ChIP-seq, Target Capture)

Methylation array

Illumina

(HiSeq 2500/X Ten, MethylationEPIC, HumanMethylation450)

84 infants with KMT2A-rearranged acute lymphoblastic leukemia

3 cell lines derived from infants with KMT2A-rearranged acute lymphoblastic leukemia

(Japanese)

Junko Takita

Controlled-access

(Type I)

hum0316.v1

JGAS000535

Whole-genome sequencing of esophageal cancer to elucidate pathogenesis and search for treatment-sensitive markers

v1:2022/05/26

NGS

(WGS, RNA-seq)

Illumina

(HiSeq 2000/2500)

Esophageal squamous cell carcinoma: 110 cases

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0317.v1

JGAS000413

Research on the establishment of patient derived xenograft models useful for drug discovery research

v1:2021/12/06

NGS

(Exome, RNA-seq)

Illumina

(NovaSeq 6000)

Non-small cell lung cancer: 4 cases

(Japanese)

Akinobu Hamada

Controlled-access

(Type I)

hum0318.v1

JGAS000483

Clinical sequence of hematological malignancy

v1:2022/03/09

NGS

(Target Capture)

Illumina

(MiSeq)

B-ALL: 1 case

(Japanese)

Arinobu Tojo

Controlled-access

(Type I)

hum0319.v1

JGAS000487

Development of diagnostic markers for prostate cancer using genetic polymorphisms

Identification of Rare Variants Involved in the Development of Prostate Cancer in Japanese

v1:2022/01/21

NGS

(Target Capture)

Illumina

(HiSeq 2500)

1,336 men with suspected prostate cancer scheduled for prostate biopsy

(Japanese)

Shusuke Akamatsu

Controlled-access

(Type I)

hum0320.v1

JGAS000480

Immunomonitoring study in patients with malignant tumors

v1:2022/01/25

NGS

(scRNA-seq, TCR-seq)

MGI

(DNBSEQ-G400)

lung adenocarcinoma: 2 cases

head and neck cancer: 3 cases

(Japanese)

Yosuke Togashi

Controlled-access

(Type I)

hum0321.v1

JGAS000482

Comprehensive analysis of interaction between human gene expression and environmental metagenomes

v1:2022/06/17

NGS

(scRNA-seq)

Illumina

(NovaSeq 6000)

Myasthenia gravis: 4 cases

(Japanese)

Tatsusada Okuno

Controlled-access

(Type I)

hum0323.v1

JGAS000489

Biomarker exploration of colon cancer

v1:2022/01/24

NGS

(CAGE-seq)

Illumina

(HiSeq 2500)

45 colon cancers

(Japanese)

Yasushi Kogo

Controlled-access

(Type I)

hum0324.v1

JGAS000515

Genetic analysis of cerebrovascular diseases and neuromuscular disorders

v1:2022/04/11

NGS

(WGBS)

Illumina

(NovaSeq 6000)

10 neuromyelitis optica (NMOSD) positive for AQP4 antibody

8 healthy controls

(Japanese)

Tatsusada Okuno

Controlled-access

(Type I)

hum0327.v1

JGAS000507

Screening of neoantigens and neoantigen reactive T cell receptors in hepatobiliary and pancreatic cancer for clinical application of personalized T cell therapy

v1:2022/02/25

NGS

(Exome, RNA-seq)

Illumina

(NextSeq 550)

hepatocellular carcinoma: 28 cases

metastatic colorectal carcinoma: 18 cases

(Japanese)

Toshihiro Suzuki

Controlled-access

(Type I)

hum0328.v1

JGAS000509

Frequency of germline variants in genes associated with DNA repair among adanced prostate cancer patients in Japan

v1:2023/05/11

NGS

(Target Capture)

Illumina

(HiSeq 2500)

prostate cancer: 129 cases

(Japanese)

Shusuke Akamatsu

Controlled-access

(Type I)

hum0329.v1

JGAS000522

Next-generation sequencing-based comprehensive genetic analysis of undiagnosed disease

v1:2022/06/17

NGS

(Exome)

Illumina

(HiSeq 2500)

Patients with undiagnosed diseases and their parents: 177 families(522 samples)

(Japanese)

Hideki Muramatsu

Controlled-access

(Type I)

hum0331.v1

Construction of control data for the promotion of genomic medicine for cancers and rare diseases

v1:2023/02/01

NGS

(WGS)

Illumina

(NovaSeq 6000)

9290 healthy individuals

(Japanese)

Katsushi Tokunaga

Unrestricted-access

hum0332.v1

JGAS000510

A study on personalized medicine in genitourinary cancers using genetic biomarkers.

v1:2022/05/30

NGS

(Exome)

Illumina

(NovaSeq 6000)

1 castration-resistant prostate cancer

(Japanese)

Shusuke Akamatsu

Controlled-access

(Type I)

hum0335.v1

DRA014819

Research on new diagnosis and clinical picture of lymphoproliferative diseases by combining genetic analysis and immunological traits

v1:2022/09/14

NGS

(Target Capture)

Illumina

(NextSeq 500)

Waldenström macroglobulinemia: 10 cases

non IgM-type lymphoplasmacytic lymphoma: 10 cases

(Japanese)

Akihiko Yokohama

Unrestricted-access

hum0338.v1

JGAS000575

Comprehensive cancer genome, epigenome, and immunogenome analysis for gastric cancer unaffected by aging or Helicobacter pylori infection

v1:2022/11/22

NGS

(Exome)

Illumina

(HiSeq 2000)

H. Pylori uninfected gastric cancer: 27 cases

H. Pylori infected gastric cancer: 36 cases

(Japanese)

Seiichi Mori

Controlled-access

(Type I)

hum0340.v1

JGAS000520

Comprehensive genomic analysis using next-generation sequencer for pediatric solid tumor cases

v1:2022/08/04

NGS

(WGS, Target Capture)

Illumina

(Hiseq X Ten)

Colorectal cancer: 24 cases

Retinoblastoma: 1 case

Glioblastoma: 2 cases

Utako Oba

Controlled-access

(Type I)

hum0342.v1

JGAS000538

Immunohistochemical and molecular pathological search in gastrointestinal tumors

v1:2022/06/27

NGS

(Exome)

Illumina

(NovaSeq 6000)

Colorectal cancer: 29 cases

(Japanese)

Shigeki Sekine

Controlled-access

(Type I)

hum0343.v2

Development of COVID19 vaccine and evaluation system based on genetics of COVID-19

v1:2022/05/26

v2:2022/06/14

NGS

(RNA-seq)

SNP-chip

eQTL/sQTL

Illumina

(Asian Screening Array, NovaSeq6000)

COVID-19: 2393 cases

Healthy controls: 3289 individuals

(Japanese)

Koichi Fukunaga

Unrestricted-access

hum0344.v2

JGAS000533

JGAS000611

Genome sequencing analysis for biliary tract cancer

v1:2022/08/04

v2:2023/05/16

NGS

(WGS, RNA-seq, Amplicon-seq)

Illumina

(HiSeq 2500)

MGI

(MGISEQ-2000RS)

kidney cancers: 38 cases

chronic kidney disease: 77 cases

(Japanese)

HEK293 cell line: 1 sample

(Cell-line)

Hidewaki Nakagawa

Controlled-access

(Type I)

hum0345.v1

JGAS000528

JGAS000551

Fundamental study for regenerative medicine utilizing cord blood

v1:2022/08/05

NGS

(scRNA-seq, ATAC-seq)

Illumina

(NovaSeq 6000)

30 healthy volunteers

Kohshi Ohishi

(Genome Science)

Controlled-access

(Type I)

hum0347.v2

Comprehensive genetic analysis of acute encephalopathy

v1:2022/05/23

v2:2022/07/15

Sanger-seq

SNP-chip

Life Technologies

(310 Genetic Analyzer, 3100 Genetic Analyzer, 3130xl Genetic Analyzer)

Affymetrix

(Japonica Array v2)

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD): 283 cases

Healthy controls: 799 individuals

(Japanese)

Masashi Mizuguchi

Unrestricted-access

hum0348.v1

JGAS000537

Analysis of ATL progression by CD30 signaling and its biomarkers

v1:2023/05/15

NGS

(Exome)

Array CGH

Illumina

(NovaSeq 6000)

Agilent Technologies

(GenetiSure Cancer Research CGH+SNP Microarray 2 x 400K)

ATL: 8 cases

(Japanese)

Makoto Nakashima

Controlled-access

(Type I)

hum0350.v1

JGAS000689

Comprehensive analysis of genetic alterations in hematological malignancies

v1:2024/06/13

NGS

(5' single-cell RNA-seq, 3' single-cell RNA-seq, Micro-C and Region Capture Micro-C, CITE-seq, Multimodal assay including single-nucleus ATAC-seq, 3' and 5’ single-nucleus RNA-seq, and 5' single-cell RNA-seq, MAS-seq, CAGE-seq, and NET-CAGE-seq)

Illumina

(NovaSeq 6000, NextSeq 500)

PacBio

(Sequel Ⅱ)

3 healthy individuals (1 male, 2 females)

(Japanese)

Kazuhiko Yamamoto

Controlled-access

(Type I)

hum0351.v1

JGAS000540

Analytical study of protein function and RNA expression involved in predicting treatment efficacy and adverse event development in lung cancer radiotherapy

v1:2022/09/08

Metagenome

Illumina

(MiSeq)

moyamoya disease: 27 cases

non-moyamoya intracranial large artery disease: 7 cases

controls: 15 individuals.

(Japanese)

Yohei Mineharu

Controlled-access

(Type I)

hum0352.v1

JGAS000545

Analytical study of protein function and RNA expression involved in predicting treatment efficacy and adverse event development in lung cancer radiotherapy

v1:2022/09/20

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

primary lung cancer: 5 cases

(Japanese)

Masanori Someya

Controlled-access

(Type I)

hum0354.v2

Analyses of circulating tumor cells from patients with advanced urogenital cancer

v1:2022/06/30

v2:2023/04/18

qRT-PCR

BioRad

(T100 Thermal cycler)

127 patients with advanced metastatic castration-resistant prostate cancer

(Japanese)

Masayoshi Nagata

Unrestricted-access

hum0355.v1

JGAS000544

Genomic analysis of genitourinary tumors by next generation sequencing

v1:2023/06/19

NGS

(WGS, Exome, RNA-seq)

Microarray

Illumina

(NovaSeq 6000, NextSeq 500, HiSeq X Ten)

NanoString Technologies

(nCounter Digital Analyzer)

hereditary clear cell renal cell carcinoma associated with VHL disease: 10 cases

(Japanese)

Keisuke Kataoka

Controlled-access

(Type I)

hum0356.v2

DRA015288

E-GEAD-579

DRA016520

E-GEAD-619

Molecular genetic and molecular epidemiological studies to improve the treatment of pancreatic cancer

v1:2022/12/20

v2:2024/05/31

NGS

(Visium Spatial Gene Expression)

Histological image

Illumina

(NovaSeq 6000)

1 + 2 colorectal cancers

(Japanese)

Koshi Mimori

Unrestricted-access

hum0357.v5

JGAS000557

JGAS000609

JGAS000610

Research for biological features by gene expression analysis and biomarkers at diagnosis/therapeutics in lung cancer

v1:2022/11/30

v2:2023/01/11

v3:2023/02/15

v4:2023/08/09

v5:2024/06/05

NGS

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

Methylation array

Illumina

(HiSeq 2000/X Ten, NovaSeq 6000, MethylationEPIC)

lung cancer: 105 cases

(Japanese)

Hiroyuki Yasuda

Controlled-access

(Type I)

hum0358.v2

JGAS000582

JGAS000586

JGAS000640

Research of genetic abnormalities related to the development and prognosis of adenocarcinoma and squamous cell carcinoma of the cervix and vaginal and vulvar cancer

v1:2022/12/20

v2:2023/10/19

NGS

(Exome, RNA-seq, scRNA-seq)

Illumina

(NovaSeq 6000, MiSeq)

cervical cancer: 19 + 4 cases

(Japanese)

NIKS18 cell line: 5 samples

(Cell-line)

Kenbun Sone

Controlled-access

(Type I)

hum0359.v1

JGAS000548

Genomic and Epigenetic Analysis on T/NK-cell lymphoma

v1:2022/08/01

NGS

(Target Capture)

Illumina

(NovaSeq 6000)

Extranodal NK/T-cell lymphoma, nasal type: 67 cases

(Japanese)

Naoki Oishi

Controlled-access

(Type I)

hum0360.v1

JGAS000546

Exploratory research on COVID-19 pathogenesis and aggravation

v1:2022/12/21

NGS

(scRNA-seq, scVDJ-seq)

Illumina

(NovaSeq 6000)

COVID-19: 6 cases

(Japanese)

Ai Tachikawa

Controlled-access

(Type I)

hum0364.v1

Comprehensive analysis of microsatellite polymorphisms in human populations

v1:2022/08/29

NGS

(WGS)

Illumina

(bam files were publicly available)

Simons Genome Diversity Project (SGDP): 276 samples

Human Genome Diversity Project (HGDP): 693 samples

Jomon Individual: 1 individual

Akihiro Fujimoto

Unrestricted-access

hum0365.v1

JGAS000569

The role of gut microbiota in metabolic diseases

v1:2023/06/09

NGS

(CAGE-seq)

Illumina

(HiSeq 2500)

normoglycemic lean group: 103 individuals

obese group: 98 cases

prediabetic group: 97 cases

(Japanese)

Hiroshi Ohno

Controlled-access

(Type I)

hum0366.v1

E-GEAD-511

E-GEAD-512

Pathogenesis of severe acute respiratory syndrome coronavirus 2 infection (COVID-19)

v1:2023/03/16

NGS

(scRNA-seq, RNA-seq, ATAC-seq)

Illumina

(NovaSeq 6000)

COVID-19: 16 cases

10 healthy individuals

(Japanese)

Yasuhiro Kato

Unrestricted-access

hum0367.v1

JGAS000558

Clinical sequence of hematological malignancy

v1:2022/09/21

NGS

(Target Capture)

Illumina

(MiSeq)

langerhans cell histiocytosis: 1 case

(Japanese)

Arinobu Tojo

Controlled-access

(Type I)

hum0368.v1

JGAS000559

Identification and functional analysis of novel causative genes of ICF syndrome by whole genome sequencing

v1:2022/11/29

NGS

(PBAT-seq)

Illumina

(NovaSeq 6000)

ICF syndrome: 1 case

(Japanese)

Motoko Unoki

Controlled-access

(Type I)

hum0369.v1

JGAS000562

A study of resistance to novel coronavirus infection in health care workers

v1:2022/09/28

NGS

(Target Capture)

Illumina

(NextSeq 500)

139 healthy persons

(Japanese)

Atsushi Kawaguchi

Controlled-access

(Type I)

hum0371.v1

JGAS000574

Research on genes and proteins associated with liver disease.

v1:2022/12/22

Metagenome

Illumina

(MiSeq)

NASH: 20 cases

(Japanese)

Ryosuke Tateishi

Controlled-access

(Type I)

hum0372.v1

JGAS000572

MTBKS213

MTBKS214

Elucidation of disease state by multi-layered omics analysis

 

v1:2022/11/22

Metabolome

Agilent Technologies

(Agilent CE system, Agilent LC System)

type2 diabetes: 300 cases

(Japanese)

Toshimasa Yamauchi

Unrestricted-access

Controlled-access

(Type I)

hum0376.v2

JGAS000585

Establishment of xenografts and cultured cell lines from clinical samples.

v1:2022/12/27

v2:2023/03/28

NGS

(Target Capture)

Illumina

(NextSeq 500)

endometrial cancer: 2 + 4 cases

(Japanese)

Toshio Imai

Controlled-access

(Type I)

hum0377.v1

JGAS000579

Research on the genetic basis of arrhythmia syndrome

v1:2022/12/13

NGS

(Amplicon-seq)

Thermo Fisher Scientific

(Ion Proton)

LQTS: 556 cases

(Japanese)

Toshihiro Tanaka

Controlled-access

(Type I)

hum0379.v1

JGAS000578

Immune regulation by cotrolling regulatory T cell-specific epigenome

v1:2023/11/20

NGS

(scRNA-seq, scVDJ-seq)

Illumina

(NovaSeq 6000)

myasthenia gravis: 2 cases

multiple sclerosis: 4 cases

systemic lupus erythematosus: 3 cases

3 healthy cases

(Japanese)

Shimon Sakaguchi

Controlled-access

(Type I)

hum0381.v1

JGAS000588

A biomarker study of a multicenter Phase II Trial of Nivolumab for Unresectable or Recurrent Thymic Carcinoma (NCCH1505)

v1:2023/01/05

NGS

(Target Capture)

Illumina

(NextSeq 500)

thymic carcinoma: 2 cases

(Japanese)

Hidehito Horinouchi

Controlled-access

(Type I)

hum0382.v1

JGAS000587

Analysis of genetic and epigenetic abnormalities in hematopoietic diseases

v1:2023/01/19

NGS

(WGS)

Illumina

(NovaSeq 6000)

AML with FUS-ERG: 1 case

(Japanese)

Masahiro Kawahara

Controlled-access

(Type I)

hum0383.v1

JGAS000602

Analysis of the effect of abatacept for the transcriptome of multiple lymphoid subsets

v1:2023/03/28

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

Rheumatoid arthritis: 5 cases

(Japanese)

Keishi Fujio

Controlled-access

(Type I)

hum0385.v2

JGAS000597

JGAS000599

Comprehensive genetic analysis of Combined hepatocellular-cholangiocarcinoma, Cholangiolocarcinoma, Keratin 19-expressing hepatocellular carcinoma, and SOX9-expressing hepatocellular carcinoma

v1:2023/12/14

v2:2024/01/09

NGS

(Exome)

Illumina

(NovaSeq 6000)

Cholangiolocarcinoma: 8 cases

Combined hepatocellular-cholangiocarcinoma: 13 cases

(Japanese)

Takamichi Ishii

Controlled-access

(Type I)

hum0386.v1

DRA015813

Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes

v1:2023/04/11

NGS

(WGS)

Nanopore

(MinION)

HapMap: 1 sample

(Cell-line)

Akihiro Fujimoto

Unrestricted-access

hum0389.v1

JGAS000605

Genetic analysis of fetal developmental abnormalities

v1:2023/04/04

NGS

(Capture Methyl-seq)

Illumina

(HiSeq X)

4 healthy women

(Japanese)

Kazuhiko Nakabayashi

Controlled-access

(Type I)

hum0390.v1

JGAS000621

Elucidation of genetic factors associated with chronic endometritis (CE) through genomic and epigenomic analyses, and investigation on novel diagnostic and therapeutic methods for CE

v1:2023/06/30

NGS

(RNA-seq)

Illumina

(HiSeq X Ten)

chronic endometritis: 24 cases

33 controls

(Japanese)

Keiji Kuroda

Controlled-access

(Type I)

hum0394.v1

JGAS000613

Multi‐institutional joint research of spatial transcriptome analysis for non-small cell lung cancers

v1:2024/04/08

NGS

(Visium Spatial Gene Expression)

Histological image

Xenium In Situ Gene Expression

Multiplex Fluorescence Immunostaining

Illumina

(NovaSeq 6000)

10x Genomics

(Xenium Analyzer)

Akoya Biosciences

(PhenoCycler)

8 non-small cell lung cancer patients

(Japanese)

Ayako Suzuki

Controlled-access

(Type I)

hum0395.v1

JGAS000678

Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey"): Hokkaido Information University

An epidemiological study examining the relationship among food, health, and genome: Hokkaido Information University

v1:2024/04/01

Attributes, Blood and Urine Test

Body measurement

Questionnaire, Interview

Sleep diary, Heart rate/brain wave during sleep

Microbiome composition

Nutrient intake, Food frequency questionnaire

Metabolomics

SNP-chip

Affymetrix

(Japonica Array v2)

963 healthy individuals

(Japanese)

Jun Nishihira

Controlled-access

(Type I)

hum0396.v1

JGAS000679

Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey"): University of Miyazaki

An epidemiological study examining the relationship among food, health, and genome: University of Miyazaki

v1:2024/04/01

Attributes, Blood and Urine Test

Body measurement

Questionnaire, Interview

Sleep diary, Heart rate/brain wave during sleep

Microbiome composition

Nutrient intake, Food frequency questionnaire

Metabolomics

SNP-chip

Affymetrix

(Japonica Array v2)

50 healthy individuals

(Japanese)

Manabu Yoshimura

Controlled-access

(Type I)

hum0397.v1

JGAS000680

Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey"): Kyoto University

An epidemiological study examining the relationship among food, health, and genome: Kyoto University

v1:2024/04/01

Attributes, Blood and Urine Test

Body measurement

Questionnaire, Interview

Sleep diary, Heart rate/brain wave during sleep

Microbiome composition

Nutrient intake, Food frequency questionnaire

SNP-chip

Affymetrix

(Japonica Array v2)

50 healthy individuals

(Japanese)

Nobuya Inagaki

Controlled-access

(Type I)

hum0398.v1

JGAS000681

Comprehensive survey for the construction of an integrated database of food, gut microbiome, and health information (the "Sukoyaka Health Survey"): University of Nagasaki

v1:2024/04/01

Attributes, Blood and Urine Test

Body measurement

Questionnaire, Interview

Sleep diary, Heart rate/brain wave during sleep

Microbiome composition

Nutrient intake, Food frequency questionnaire

-

59 healthy individuals

(Japanese)

Kazunari Tanaka

Controlled-access

(Type I)

hum0399.v1

JGAS000616

Exploratory studies of molecular biological mechanisms related to the breast cancer microenvironment

v1:2024/06/12

NGS

(Visium Spatial Gene Expression)

Histological image

Illumina

(NovaSeq 6000)

breast cancer: 2 cases

(Japanese)

Shinpei Kawaoka

(Genome Science)

Controlled-access

(Type I)

hum0401.v1

JGAS000618

Development of cell lines and mouse models of bone and soft tissue sarcoma to establish novel treatment

v1:2023/06/29

NGS

(Exome, RNA-seq)

Illumina

(NovaSeq 6000)

MGI

(DNBSEQ-G400)

giant cell tumor of bone: 1 case

(Japanese)

Toru Wakamatsu

Controlled-access

(Type I)

hum0402.v1

DRA016537

E-GEAD-622

Elucidation of the mechanisms that give rise to driver mutations in colorectal carcinogenesis

v1:2024/04/12

NGS

(Visium Spatial Gene Expression)

Histological image

MGI

(DNBSEQ-G400)

colorectal cancer: 4 cases

(Japanese)

Koshi Mimori

Unrestricted-access

hum0403.v1

JGAS000622

Investigation of the utility of liquid biopsy in urologic cancer

v1:2023/07/27

NGS

(Target Capture)

Illumina

(NextSeq 500)

Metastatic urothelial carcinoma: 16 cases

(Japanese)

Kazuki Hamada

Controlled-access

(Type I)

hum0405.v1

JGAS000623

Research on the identification of cancer stem cells for peidatric and adult malignancies

v1:2023/12/25

NGS

(Exome, RNA-seq, small RNA-seq)

Illumina

(HiSeq X, NextSeq 550)

MGI

(DNBSEQ-G400RS)

Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases

(Japanese)

Junko Takita

Controlled-access

(Type I)

hum0406.v1

JGAS000617

E-GEAD-623

The Generation of Human Disease-Specific iPS Cells and the Use of Such iPS Cells for Disease Analysis

v1:2023/08/29

NGS

(RNA-seq)

Illumina

(NextSeq 2000)

Familial interstitial pneumonia with SFTPC variant: 1 case

(Japanese)

Shimpei Gotoh

Unrestricted-access

Controlled-access

(Type I)

hum0409.v1

JGAS000619

Analysis of genes that confer exceptional response in anticancer therapy

v1:2023/06/27

NGS

(Exome, RNA-seq, Target Capture)

Illumina

(NextSeq 550, NovaSeq 6000)

Intimal sarcoma with MDM2 amplification: 11 cases

(Japanese)

Takafumi Koyama

Controlled-access

(Type I)

hum0411.v1

JGAS000625

Investigation of molecular diagnosis by molecular biological analysis using next-generation sequencer for actionable endocrine diseases (including neoplastic diseases)

v1:2023/07/18

NGS

(Exome)

Illumina

(HiSeq 2500)

FBPase deficiency: 1 case

3 family members

(Japanese)

Tomoaki Tanaka

Controlled-access

(Type I)

hum0413.v1

JGAS000628

Comprehensive analysis on medical and omics data from patients with atopic dermatitis

v1:2023/07/20

NGS

(RNA-seq)

Illumina

(HiSeq 1500/2500)

Atopic dermatitis: 161 cases

41 healthy controls

(Japanese)

Haruhiko Koseki

Controlled-access

(Type I)

hum0414.v1

DRA016800

Elucidation of molecular mechanisms of lung cancer development and progression based on genome analysis

v1:2023/07/25

NGS

(WGS)

Illumina

(NovaSeq 6000)

SAEC and its derived cell lines: 5 samples

(Cell-line)

Bunsyo Shiotani

Unrestricted-access

hum0416.v1

E-GEAD-635

Elucidation of biological responses in intractable immune disorders and cancer and development of novel therapies through sequential multilevel omics analysis.

v1:2023/08/10

NGS

(CITE-seq)

Illumina

(HiSeq 2500, NovaSeq 6000)

microscopic polyangiitis: 8 cases

7 healty donors

(Japanese)

Takehisa Kitazawa

Unrestricted-access

hum0419.v3

JGAS000641

JGAS000653

JGAS000664

Application of organoid culture system of human gastrointestinal and thoracic cancer in genome medicine

v1:2024/04/24

v2:2024/05/08

v3:2024/06/17

NGS

(Exome, RNA-seq)

Illumina

(NovaSeq 6000)

pulmonary large cell neuroendocrine carcinoma: 3 cases

mucus-producing solid-dominant adenocarcinoma of lung: 1 case

pulmonary adenocarcinoma harboring EML4-ALK variant 3: 1 case

(Japanese)

Takuya Fukazawa

Controlled-access

(Type I)

hum0427.v1

JGAS000645

Establishment of cell lines derived from head and neck malignancies

Comprehensive genetic analysis and database construction for head and neck malignancies

v1:2023/11/02

NGS

(Exome)

MGI

(DNBSEQ-G400)

external auditory canal squamous cell carcinoma: 1 case

(Japanese)

Takashi Nakagawa

Controlled-access

(Type I)

hum0429.v1

JGAS000643

CRISPR screening identifies mechanisms of resistance to KRASG12C and SHP2 inhibitor combinations in non-small cell lung cancer

v1:2023/11/13

NGS

(WGS, RNA-seq)

Illumina

(NovaSeq 6000)

tumor tissue collected from LU99 tumor-bearing mice: total 16 samples

(Cell-line)

Saskia Brachmann

Controlled-access

(Type I)

hum0431.v1

JGAS000651

Genetic analysis aimed at elucidating the pathophysiology, vulnerability to onset, treatment responsiveness of neuropsychiatric disorders, and developing new treatments and diagnostic and preventive methods

v1:2024/01/25

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

human iPS cells introduced single variants identified in patients with ASD: 5 samples

control human iPS cells: 4 samples

(Cell-line)

Atsushi Takata

Controlled-access

(Type I)

hum0435.v1

JGAS000665

Investigation of a method for generating cells for regenerative medicine using comprehensive nucleic acid analysis of iPS cell-derived cardiomyocytes

v1:2024/03/18

NGS

(scRNA-seq)

Illumina

(HiSeq 3000)

Cardiomyocytes differentiated from human iPS cells established from healthy donor cells: 1 samples

(Cell-line)

Shigeru Miyagawa

Controlled-access

(Type I)

hum0436.v1

JGAS000668

Genetic polymorphism and gene transcriptome study on the etiology of autism

v1:2024/02/06

NGS

(RNA-seq)

Illumina

(HiSeq 2000)

Autistic disorder: 16 cases

17 Controls

(Cell-line)

Tetsuya Marui

Controlled-access

(Type I)

hum0437.v1

JGAS000671

Genetic analysis of novel biomarkers and molecular targets for malignant brain tumors and their clinical application through multicenter collaborative research

v1:2024/03/05

NGS

(RNA-seq)

Illumina

(NovaSeq 6000)

glioma: 124 cases

(Japanese)

Shinji Kohsaka

Controlled-access

(Type I)

hum0439.v1

DRA017996

Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease

v1:2024/02/27

NGS

(Target Capture)

Nanopore

(MinION)

Familial hypercholesterolemia: 5 cases

1 Control

(Japanese)

Koh Ono

Unrestricted-access

hum0440.v1

JGAS000672

E-GEAD-747

Elucidation of proteins associated with the clinical course of refractory neuromuscular diseases using nerve and muscle tissue

v1:2024/05/17

NGS

(Visium Spatial Gene Expression)

Histological image

MGI

(DNBSEQ-G400RS)

Thymoma: 7 cases

Thymic hyperplasia: 2 cases

(Japanese)

Tatsusada Okuno

Unrestricted-access

Controlled-access

(Type I)

hum0443.v1

DRA017833

E-GEAD-674

Relationship between changes in the T-cell receptor repertoire of regulatory T cells before and after pregnancy and pregnancy outcome.

v1:2024/05/10

NGS

(Target RNA-seq, TCR-seq)

Illumina

(NovaSeq 6000)

Healthy pregnancy: 7 subjects

Preeclampsia: 3 cases

(Japanese)

Akitoshi Nakashima

Unrestricted-access

hum0444.v1

JGAS000684

Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis

v1:2024/04/03

NGS

(WGS, Exome, Long-read WGS, Amplicon-seq, RNA-seq)

SNP array

Methylation array

MGI

(DNBSEQ-T7)

Illumina

(NovaSeq 6000, MiSeq, Infinium Asian Screening Array, Infinium MethylationEPIC)

PacBio

(Sequel II)

8 porokeratosis patients

(Japanese)

Akiharu Kubo

Controlled-access

(Type I)

hum0461.v1

JGAS000712

Analysis of the cancer immune response following radiation therapy for esophageal squamous cell carcinoma and colorectal cancer

v1:2024/05/31

NGS

(scRNA-seq, Visium Spatial Gene Expression)

Histological image

Illumina

(HiSeq 3000, NovaSeq 6000)

esophageal squamous cell carcinoma: 7 cases

(Japanese)

Shun-Ichiro Kageyama

Controlled-access

(Type I)

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

* The study including processed data by JGA (e.g. alignment results [CRAM], variant call results per sample [gVCF], variant call results per dataset [aggregated VCF] processed in a certain workflow) Learn more