Article
Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk.
Nature genetics - 1 Jun 2023
Kojima Shohei, Koyama Satoshi, Ka Mirei, Saito Yuka, Parrish Erica H, Endo Mikiko, Takata Sadaaki, Mizukoshi Misaki, Hikino Keiko, Takeda Atsushi, Gelinas Asami F, Heaton Steven M, Koide Rie, Kamada Anselmo J, Noguchi Michiya, Hamada Michiaki, Kamatani Yoichiro, Murakawa Yasuhiro, Ishigaki Kazuyoshi, Nakamura Yukio, Ito Kaoru, Terao Chikashi, Momozawa Yukihide, Parrish Nicholas F
Abstract excerpt
Mobile 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. We find unexpected...
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