Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk

• Published in: Nature genetics Vol. 55; no. 6; pp. 939 - 951
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.06.2023; Nature Publishing Group
• Subjects: 45/43; 631/208/200; 631/208/205/2138; 631/208/457; Agriculture; Animal Genetics and Genomics; Bias; Biomedical and Life Sciences; Biomedicine; Cancer Research; DNA methylation; Enhancers; Fasciitis; Gene expression; Gene Expression Regulation; Gene Function; Gene mapping; Gene regulation; Gene sequencing; Genetics; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genotype & phenotype; Genotypes; Health risks; Human Genetics; Human populations; Humans; Insertion; Mutagens; Mutation; Phenotype; Polymorphism, Single Nucleotide; Populations; Post-transcription; Preferences; Quantitative Trait Loci; Risk; Statistical genetics; Whole genome sequencing

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 MEV...