Article
Increased mutation and gene conversion within human segmental duplications.
Nature - 1 May 2023
Vollger Mitchell R, Dishuck Philip C, Harvey William T, DeWitt William S, Guitart Xavi, Goldberg Michael E, Rozanski Allison N, Lucas Julian, Asri Mobin, Munson Katherine M, Lewis Alexandra P, Hoekzema Kendra, Logsdon Glennis A, Porubsky David, Paten Benedict, Harris Kelley, Hsieh PingHsun, Eichler Evan E
Abstract excerpt
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data1,2. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the pattern of SNVs between unique and duplicated regions3,4. We find that human SNVs are elevated 60% in SDs compared to unique...
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