Increased mutation and gene conversion within human segmental duplications

• Published in: Nature (London) Vol. 617; no. 7960; pp. 325 - 334
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 11.05.2023; Nature Publishing Group
• Subjects: 45; 45/23; 631/181/2474; 631/208/212/2304; 631/208/457/649/2157; 631/208/726/649; 631/208/737; Conversion; CpG islands; CpG Islands - genetics; Cytosine; Cytosine - chemistry; Deoxyribonucleic acid; DNA; Estimates; Exons; Exons - genetics; Gene conversion; Gene Conversion - genetics; Gene mapping; Genes; Genome, Human - genetics; Genomes; Guanine - chemistry; Haplotypes; Haplotypes - genetics; Humanities and Social Sciences; Humans; multidisciplinary; Mutation; Nucleotide sequence; Nucleotides; Polymorphism, Single Nucleotide - genetics; Reproduction (copying); Science; Science (multidisciplinary); Segmental Duplications, Genomic

Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data 1 , 2 . Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the patt...