Haplotype-based inference of the distribution of fitness effects.

ABSTRACT: Recent genome sequencing studies with large sample sizes in humans have discovered a vast quantity of low-frequency variants, providing an important source of information to analyze how selection is acting on human genetic variation. In order to estimate the strength of natural selection acting on low-frequency variants, we have developed a likelihood-based method that uses the lengths of pairwise identity-by-state between haplotypes carrying low-frequency variants. We show that in some nonequilibrium populations (such as those that have had recent population expansions) it is possible to distinguish between positive or negative selection acting on a set of variants. With our new framework, one can infer a fixed selection intensity acting on a set of variants at a particular frequency, or

SUBMITTER: Ortega-Del Vecchyo D 

PROVIDER: S-EPMC8982047 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature