Article

Identifying non-identical-by-descent rare variants in population-scale whole genome sequencing data

2020-05-28

Abstract excerpt

The site frequency spectrum in human populations is not accurately modeled by an infinite sites model, which assumes that all mutations are unique. Despite the pervasiveness of recurrent mutations, we lack computational methods to identify these events at specific sites in population sequencing data. Rare alleles that are identical-by-descent (IBD) are expected to segregate on a long, shared haplotype background t...

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Literature Corpus work: c8b293e8-ca3a-5fa9-91e9-ce9ecea685e7
DOI: 10.1101/2020.05.26.117358

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