Satoshi Makino

This paper updates the Japanese population-specific reference genome JG1 to JG2 using Hi-C and meta-assembly methods, improving coverage and accuracy for genetic research.

This paper constructs a fine-scale genetic map of the Japanese population using whole-genome sequencing data, identifies recombination hotspots, and shows improved haplotype phasing and imputation accuracy.

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 uses clustering and genome-wide association studies to identify subgroups in autism spectrum disorder and finds significant loci associated with these subgroups.

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