Shohei Kojima

May 29, 2024 | nature.com | Shohei Kojima

AbstractThe integration of structural variations (SVs) in statistical genetics provides an opportunity to understand the genetic factors influencing complex human traits and disease. Recent advances in long-read technology and variant calling methods for short reads have improved the accurate discovery and genotyping of SVs, enabling their use in expression quantitative trait loci (eQTL) analysis and genome-wide association studies (GWAS).

May 11, 2023 | nature.com | Shohei Kojima |Satoshi Koyama |Steven Heaton |Yoichiro Kamatani |Yasuhiro Murakawa |Kazuyoshi Ishigaki | +6 more

AbstractMobile genetic elements (MEs) are heritable mutagens that recursively generate structural variants (SVs). ME variants (MEVs) are difficult to genotype and integrate in statistical genetics, obscuring their impact on genome diversification and traits. We developed a tool that accurately genotypes MEVs using short-read whole-genome sequencing (WGS) and applied it to global human populations.