Chinatsu Gocho

The paper introduces a polygenic risk score framework that improves type 2 diabetes risk prediction by accounting for clinical subtypes and pathway-specific contributions.

The paper introduces Japonica Array NEO, a SNP array for the Japanese population with enhanced coverage and disease risk SNPs, showing high imputation quality and utility in genotyping cohorts.

This paper constructs and integrates three de novo Japanese human genome assemblies to create a population-specific reference, improving variant calling accuracy for Japanese individuals.

The paper constructs a population-level allele frequency panel of 3,552 Japanese individuals using a standardized pipeline and makes it publicly available.