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NBDC Research ID:hum0311-v7
Release info
Latest

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

Targets: 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

Dataset ID
Access type
Type of data
Release date
JGAD000529Controlled-access (Type I)Genotype data for 11,716 patients from BBJ 1st cohort and 42,689 patients from BBJ 2nd cohort2021-12-13
JGAD000660Controlled-access (Type I)Imputation data and index data for 180,882 patients from BBJ 1st cohort2022-08-12
JGAD000683Controlled-access (Type I)NMR metabolic biomarkers for 1,285 patients from BBJ 1st cohort2022-09-27
hum0311.v5.gwas.v1Unrestricted-accessGWAS for peptic ulcers2023-07-27
JGAD000927Controlled-access (Type I)Proteome data for 3,050 BBJ participants from BBJ 1st cohort2025-06-13

Data provider

    Representative
    Koichi Matsuda
    Organiation
    Graduate school of Frontier Science, The University of Tokyo

Research projects

Name
URL
Management of disease-oriented biobank in Japan for utilizationhttps://biobankjp.org/en/index.html

Grants

Name
Title
Project 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

Title
DOI
Datasets
East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer diseasehttps://doi.org/10.1038/s41588-023-01569-7
Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panelshttps://doi.org/10.1093/bib/bbad509

Controlled access users

Name
Organiation
Country
Research title
Period of data use
Datasets
Ono AtsushiHiroshima UniversityJapanUtilizing Genomic Information to Address Challenges in Liver Diseases2025-06-252034-03-31
Noguchi EmikoUniversity of TsukubaJapanGenetic and protein analysis of allergic diseases and allergic rhinitis.2024-05-092028-03-31
Kamitsuji ShigeoStaGen Co., Ltd.JapanGenome-Wide Association Study to identify genetic factors for strabismus in Japanese population2023-02-142027-02-28
Fukunaga KoyaRIKEN Center for Integrative Medical SciencesJapanResearch on the diagnosis, treatment, and biomarkers for severe cutaneous adverse reactions2023-02-102026-03-02
Shiraishi KouyaNational Cancer Center Research InstituteJapanElucidation of immune-system networks between host and tumor based on genomic analysis2024-06-242025-12-15
Tokunaga KatsushiJapan 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 individuals2026-07-102027-03-31
Nagasaki MasaoKyushu 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 individuals2024-06-242027-03-31
Mushiroda TaiseiRIKEN Center for Integrative Medical SciencesJapanSearch of genomic biomarkers associated with drug-induced eruptions2021-03-262028-03-31
Kimura HirokiNagoya 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 analysis2023-11-172028-10-28
Kato NorihiroNational Center for Global Health and MedicineJapanStudy of genetic predisposition of primary aldosteronism and its clinical significance2024-06-242029-03-31
Ogawa SeishiKyoto UniversityJapanAnalysis on the relationship between clonal hematopoiesis and COVID-19 infection.2022-08-182026-08-05
Kato MasakimissingJapanExploratory and validation study of genetic and biological factors for the development of precision medicine algorithms for psychiatric disorders.2023-08-252028-06-30
Kimura RyosukeUniversity of the RyukyusJapanConstruction of a human genome reference dataset and its application to population genetics and molecular evolutionary analyses2025-09-172028-03-31
Horie ShigeoJuntendo University, Graduate School of MedicineJapanDisease risk analysis of mosaic loss of chromosome Y in blood cells2025-11-132030-03-31
Terao ChikashiFujita Health UniversityJapanResearch on Personalized Medicine Leveraging Integrated Genomic Data2023-11-212026-07-10
Terao ChikashiShizuoka General HospitalJapanInvestigation of Genetic Factors Associated with Human Phenotypic Traits2024-04-252028-12-03
Okamoto TsukasaTokyo Medical and Dental UniversityJapanProspective study on analysis of genes causing or related to interstitial pneumonia2024-04-122027-03-31
Asano YoshihiroNational Cerebral and Cardiovascular Center,JapanNationwide Platform for the Promotion of Genomic Medicine in Cardiovascular Diseases2023-12-142035-03-31
Asano YoshihiroOsaka UniversityJapanSensitive gene analysis of hereditary cardiovascular disease2021-07-262027-05-31
Kochi YutaTokyo Medical and Dental UniversityJapanGenetic study of complex diseases through comprehensive analysis of functional genetic variations2023-04-122028-03-31
Okada YukinoriOsaka UniversityJapanElucidation of disease etiology by trans-layer omics analysis2022-09-152029-03-31