Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

Cancer and disease profiles for PTEN pathogenic variants in Japanese population

Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases

Artificial intelligence in medical genomics

Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population

Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity