Statistical genetics in population, individual, and single cell resolutions elucidates disease biology岡田 随象1) Sonehara K, Uwamino Y, Saiki R, et al. Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity. Cell Genom. 2025. 5(3):100783.2) Yata T, Sato G, Ogawa K, et al. Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder. Cell Genom. 2025. 5(3):100776.3) Sasa N, Kojima S, Koide R, et al. Blood DNA virome associates with autoimmune diseases and COVID-19. Nat Genet. 2025. 57(1):65-79.4) Wang QS, Hasegawa T, Namkoong H, et al. Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance. Nat Genet. 2024. 56(10):2054-2067.5) Edahiro R, Shirai Y, Takeshima Y, et al. Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity. Nat Genet. 2023. 55(5):753-767.東京大学 大学院医学研究科 遺伝情報学大阪大学 大学院医学系研究科 遺伝統計学理化学研究所 生命医科学研究センター システム遺伝学チーム11. 集団・個体・一細胞解像度の遺伝統計学と疾患病態解明Statistical genetics evaluates how human genetic variations cause diseases by leveraging statistical and bioinformatics methods. Advances in sequencing have generated large-scale genomic data, identifying numerous disease-associated loci. However, strategies to integrate this data with diverse biological resources remain underdeveloped. To address this, we have created methodologies applied to biobank-scale studies of human complex traits. Through trans-layer omics in population, individual, and single cell resolutions, we identified key cell types and microbiomes involved in disease, offering insights for personalized genomic medicine. Projecting population-level genetics into single-cell data uncovered previously unknown disease-associated cell states. Collectively, these findings highlight the power of statistical genetics in advancing disease biology research, drug development, and personalized medicine. Lastly, we present our efforts to nurture young researchers through initiatives such as the "Summer School of Statistical Genetics."Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo / Department of Statistical Genetics, Osaka University Graduate School of Medicine / Laboratory for Systems Genetics, RIKEN Center for Integrative Medical SciencesYukinori Okada23
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