Kazuyoshi Ishigaki

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.

The paper develops MENTR, a machine learning framework to predict cell-type-specific ncRNA transcription from genome sequence, identifying causal variants and ncRNAs associated with complex traits.

The paper integrates thousands of epigenetic datasets into 707 cell-type regulatory annotations to improve the trans-ethnic portability of polygenic risk scores by prioritizing variants in IMPACT regulatory elements.

The paper re-examines polygenic adaptation at height-associated loci in Sardinians and mainland Europeans using UKB and BBJ data, finding evidence of adaptation in Sardinians and a subtle signal in mainland Europeans.

The paper identifies a genetic variant on 3q23 associated with early progression from Mycobacterium tuberculosis exposure to active tuberculosis in Peruvians, showing higher heritability than general TB susceptibility.

This study analyzes genomic mutations in clonal hematopoiesis across 179,417 Japanese individuals, revealing population-specific patterns and differences in cancer risk.

IMPACT improves regulatory element annotation by integrating TF binding profiles with epigenomic data, showing better performance in predicting eQTLs and capturing RA heritability.

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.