Identifying rare variants inconsistent with identity-by-descent in population-scale whole-genome sequencing data.

ABSTRACT: Analyses of genetic variation typically assume that rare variants within a population are inherited from a single common ancestral event identity-by-descent (IBD). However, there are genetic and technical processes through which rare variants in population genetic data may deviate from this simple evolutionary model, including recurrent mutations, gene conversions and genotyping error. All these processes can decrease the expected length of shared background haplotype surrounding a rare variant if that variant was inherited from a single event descending from a common ancestor. No method exists to computationally infer rare variants inconsistent with this simple model-denoted here as 'IBD-inconsistent'-using unphased population sequencing data.We hypothesized that the difference in shared

SUBMITTER: Johnson KE 

PROVIDER: S-EPMC11210625 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature