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Population sequencing data reveal a compendium of mutational processes in the human germ line.
Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Seplyarskiy VB, et al. Among authors: mcginty rj. Science. 2021 Aug 27;373(6558):1030-1035. doi: 10.1126/science.aba7408. Epub 2021 Aug 12. Science. 2021. PMID: 34385354 Free PMC article.
Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures.
Hisey JA, Radchenko EA, Ceschi S, Rastokina A, Mandel NH, McGinty RJ, Matos-Rodrigues G, Hernandez A, Nussenzweig A, Mirkin SM. Hisey JA, et al. Among authors: mcginty rj. bioRxiv [Preprint]. 2023 Jul 26:2023.07.25.550509. doi: 10.1101/2023.07.25.550509. bioRxiv. 2023. Update in: Nucleic Acids Res. 2024 May 8;52(8):4361-4374. doi: 10.1093/nar/gkae124 PMID: 37546920 Free PMC article. Updated. Preprint.
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