Katsushi Tokunaga

This study conducts a large-scale GWAS meta-analysis across East Asian populations, identifying 8,010 new associations and revealing shared and population-specific genetic architectures for 127 complex traits.

The paper uses polygenic risk scores and Mendelian randomization to show circadian genetic factors contribute to idiopathic hypersomnia.

The paper constructs a pangenome graph reference for Japanese and Saudi Arabian populations, showing improved variant detection compared to linear references and comparable performance to existing pangenome graphs.

The paper investigates hypomethylation patterns in immune-mediated diseases, finding that solo-WCGW hypomethylation correlates with immune cell proliferation and disease-specific immune dynamics.

The paper identifies global hypomethylation in T cells of narcolepsy type 1 patients, linked to solo-WCGW motifs and T cell proliferation.

This study uses whole-genome sequencing of 9,850 Japanese samples to analyze genetic diversity, revealing population declines and natural selection linked to agriculture and food production.

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.

The paper identifies region-specific gene isoforms in the human brain using long-read transcriptome sequencing and links them to DNA methylation patterns.

This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.