Makoto Hirata

The paper develops a GeMSort algorithm to accurately distinguish germline from somatic variants in liquid biopsy genomic profiling using real-world data from over 11,000 patients.

This study develops a computational workflow for target adaptive sampling long-read sequencing and applies it to hereditary cancer genomes to identify genetic variants and epigenetic changes.

This paper introduces PathoGN, a network-based method for predicting variant pathogenicity, which outperforms existing methods and identifies pathogenicity for 3,994 variants of uncertain significance.

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

This study uses polygenic risk scores from three biobanks to show that genetic susceptibility to traits like high blood pressure and obesity is associated with shorter lifespan.

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.

This study identifies 26 genetic loci associated with reproductive ageing in a Japanese population, highlighting differences in allele frequencies and effect estimates compared to European populations.