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  1. Article

    Open Access

    Increased mutation and gene conversion within human segmental duplications

    Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of map** short-read sequencing data1,2. Here we constructed 1:1 unambiguous ali...

    Mitchell R. Vollger, Philip C. Dishuck, William T. Harvey, William S. DeWitt in Nature (2023)