Projects BBJ

Large-scale GWAS of 58 quantitative traits in up to 148,000 Japanese individuals. Identified 585 trait-associated loci, 118 of which were novel. Demonstrated cell-type-specific gene expression mediation and genetic correlations between Japanese and European populations.

Cross-population GWAS atlas integrating BBJ, UK Biobank, and FinnGen for 220 phenotypes. Identified thousands of novel loci through trans-ancestry meta-analysis, improving fine-mapping resolution with diverse ancestry. BBJ was critical for East Asian representation.

Whole-exome sequencing of BBJ participants enabling rare variant association studies. Demonstrated expanded cancer risk profiles for BRCA1/BRCA2 pathogenic variants in the Japanese population, revealing population-specific pathogenic variant frequencies.

BioBank Japan project initiated in 2003 by the Institute of Medical Science, University of Tokyo. Enrolled ~200,000 patients diagnosed with 47 common diseases from 12 medical institutions across Japan, collecting DNA, serum, and clinical information.

Genome-wide genotyping using Japanese-specific SNP arrays (Japonica Array v1/v2) designed to capture East Asian-specific variation. Included ~650,000 SNPs with enriched coverage of Japanese population variants.

Comprehensive overview of the BioBank Japan Project design, including enrollment of approximately 200,000 participants with 47 common diseases, DNA and serum collection, and prospective follow-up via medical records and disease registries.

Cross-sectional analysis of baseline clinical data from 200,000 BBJ participants across 47 common diseases, documenting prevalence, comorbidity patterns, and clinical characteristics of the Japanese patient cohort.