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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0311-v6Release info

This page is a past version (v6). The latest version is v7.
Latest version (v7)

Research title

Management of Biobank Japan and the investigation of disease biomarkers for the realization of personalized medicine / Discovery of disease makers from disease cohort network

Research overview

Aims
The BioBank Japan (BBJ) is a biobank established in the Institute of Medical Science, the University of Tokyo to collect clinical information and biological materials (DNA and serum samples). It collected about 200 thousand participants of 47 diseases started in 2003 (BBJ 1st cohort), and 67 thousand participants of 38 diseases started in 2013 (BBJ 2nd cohort), both in collaboration with 12 medical centers." This project is aiming at further utilization of the materials, and clinical and genomic information managed by BBJ to contribute to precision medicine by storing, managing, and providing the materials and data, as well as identifying biomarkers associated with disease risk, prognosis, and drug sensitivity.
Methods
Asian Screening Array (ASA-24v1-0_A2)
Imputation results based on TOPMed r2 (GRCh38)
Quantification of 250 metabolic biomarkers by NMR spectroscopy
Genome-wide association study (GWAS) for peptic ulcers
proteomics analyses
Participants/materials
BBJ 1st cohort (n = 11,716 + 180,882 + 1,285 + 2,570 + 40,907 + 3,050), BBJ 2nd cohort (n = 42,689), ToMMo (n = 49,621), UK biobank (n = 456,327), and FinnGen (n = 230,635)

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000529Genotype data for 11,716 patients from BBJ 1st cohort and 42,689 patients from BBJ 2nd cohort
  • Genotyping by array
Controlled-access (Type I)2021-12-13
JGAD000660Imputation data and index data for 180,882 patients from BBJ 1st cohort
  • Genotyping by array
Controlled-access (Type I)2022-08-12
JGAD000683NMR metabolic biomarkers for 1,285 patients from BBJ 1st cohort
  • Metabolomics (NMR)
Controlled-access (Type I)2022-09-27
NHA000189GWAS for peptic ulcers
  • Genotyping by array (GWAS)
Unrestricted-access2023-07-27

Data provider

Principal investigator
Koichi Matsuda
Affiliation
Graduate school of Frontier Science, The University of Tokyo

Research projects

NameURL
Management of disease-oriented biobank in Japan for utilization

Grants

NameTitleProject number
Biobank - Construction and Utilization biobank for genomic medicine REalization (B-Cure), Japan Agency for Medical Research and Development (AMED)
Management of disease-oriented biobank in Japan for utilization
  • JP20km0605001
  • JP23tm0624002
Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)
Phenotype-wide association study of 180,000 Biobank Japan samples using high density imputation of TOPMED reference panel
  • JP21km0405215

Related publications

TitleDOIDataset ID
East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease
Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Taisei MushirodaRIKEN Center for Integrative Medical SciencesJapanSNP analysis of wheat allergy2021-03-26 – 2028-03-31
Yoshihiro AsanoDepartment of Cardiovascular Medicine Graduate School of Medicine, Osaka UniversityJapanSensitive gene analysis of hereditary cardiovascular disease2021-07-26 – 2027-05-31
Seishi OgawaGraduate School of Medicine, Kyoto UniversityJapanAnalysis on the relationship between clonal hematopoiesis and COVID-19 infection.2022-08-18 – 2026-08-05
Yukinori OkadaDepartment of Statistical Genetics, Graduate School of Medicine, Osaka UniversityJapanDevelopment of statistical genetic analysis methods using the whole-genome data from B cell lines of Japanese individuals2022-09-15 – 2029-03-31
Koya FukunagaMedical safety science, National institute of health sciencesJapanResearch on the diagnosis, treatment, and biomarkers for severe cutaneous adverse reactions2023-02-10 – 2026-03-02
Koya FukunagaMedical safety science, National institute of health sciencesJapanResearch on the biomarkers associated with drug-induced interstitial pneumonia2023-02-10 – 2026-03-02
Koya FukunagaMedical safety science, National institute of health sciencesJapanResearch on the biomarkers associated with drug-induced liver injury 2023-02-10 – 2024-04-02
Koya FukunagaMedical safety science, National institute of health sciencesJapanResearch on the biomarkers associated with drug-induced myopathy 2023-02-10 – 2026-03-02
Shigeo KamitsujiStatistical Analysis Division, StaGen Co., Ltd.JapanGenome-Wide Association Study to identify genetic factors for strabismus in Japanese population2023-02-14 – 2027-02-28
Yuta KochiDepartment of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental UniversityJapanGenetic study of complex diseases through comprehensive analysis of functional genetic variations2023-04-12 – 2028-03-31
Masaki Kato精神神経科, 関西医科大学JapanExploratory and validation study of genetic and biological factors for the development of precision medicine algorithms for psychiatric disorders. 2023-08-25 – 2028-06-30
Hiroki KimuraDepartment of Psychiatry, Nagoya University Graduate school of medicineJapanResearch on elucidation of susceptibility to brain and mental illness (vulnerability to disease onset) and efficacy and side effects of drugs (treatment responsiveness) through genetic analysis2023-11-17 – 2028-10-28
Yoshihiro AsanoDept. of Genomic Medicine, National Cerebral and Cardiovascular CenterJapanNationwide Platform for the Promotion of Genomic Medicine in Cardiovascular Diseases2023-12-14 – 2035-03-31
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical SciencesJapanResearch on personalized medicine based on genomics information2023-11-21 – 2026-07-10
Tsukasa OkamotoThe Center for Personilized Medicine for Healthy Aging, Tokyo Medical and Dental UniversityJapanProspective study on analysis of genes causing or related to interstitial pneumonia2024-04-12 – 2027-03-31
Chikashi TeraoImmunology Research, Clinical Research Center, Shizuoka General HospitalJapanInvestigation of Genetic Factors Associated with Human Phenotypic Traits2024-04-25 – 2028-12-03
Masao NagasakiDivision of Biomedical Information Analysis, Medical Research Center for High Depth Omics, Medical Institute of Bioregulation, Kyushu UniversityJapanDevelopment and application of bioinformatics methods to facilitate the detection of genes associated with multifactorial disorders based on large-scale whole genome sequencing data of Japanese individuals2024-06-24 – 2027-03-31
Emiko NoguchiDepartment of Medical Genetics, Faculty of Medicine, University of TsukubaJapanGenome wide association study for WDEIA and exploration of wheat products2024-05-09 – 2028-03-31
Norihiro KatoGene Diagnostics and Therapeutics, National Center for Global Health and MedicineJapanStudy of genetic predisposition of primary aldosteronism and its clinical significance2024-06-24 – 2029-03-31
Kouya ShiraishiDepartment of Clinical Genomics, National Cancer Center Research InstituteJapanSearch for genes involved in susceptibility to lung cancer2024-06-24 – 2025-12-15
Taisei MushirodaLaboratory for Pharmacogenomics, RIKEN Center for Integrative Medical SciencesJapanSearch of genomic biomarkers associated with drug-induced eruptions2024-08-01 – 2028-03-31
Atsushi OnoHiroshima UniversityJapanUtilizing Genomic Information to Address Challenges in Liver Diseases2025-06-25 – 2034-03-31
Ryosuke KimuraDepartment of Human Biology and Anatomy, Graduate School of Medicine, University of the RyukyusJapanConstruction of a human genome reference dataset and its application to population genetics and molecular evolutionary analyses2025-09-17 – 2028-03-31
Katsushi TokunagaGenome Medical Science Project, Japan Institute for Health Security, National Institute of Global Health and MedicineJapanDevelopment and application of bioinformatics methods to facilitate the detection of genes associated with multifactorial disorders based on large-scale whole genome sequencing data in Japanese individuals2026-07-10 – 2027-03-31
Shigeo HorieDepartment of Urology, Juntendo University, Graduate School of MedicineJapanValidation of Biological Age Models Using Proteomics and Metabolomics Data2025-11-13 – 2030-03-31
Chikashi TeraoCenter for Genomic Medicine, Research Promotion Headquarters, Fujita Health UniversityJapanResearch on Personalized Medicine Leveraging Integrated Genomic Data2026-09-03 – 2036-03-31