Fast and accurate site frequency spectrum estimation from low coverage sequence data.

ABSTRACT:

Motivation

The distribution of allele frequencies across polymorphic sites, also known as the site frequency spectrum (SFS), is of primary interest in population genetics. It is a complete summary of sequence variation at unlinked sites and more generally, its shape reflects underlying population genetic processes. One practical challenge is that inferring the SFS from low coverage sequencing data in a straightforward manner by using genotype calls can lead to significant bias. To reduce bias, previous studies have used a statistical method that directly estimates the SFS from sequencing data by first computing site allele frequency (SAF) likelihood for each site (i.e. the likelihood a site has each possible allele frequency conditional on observed sequence reads) using a dynamic p

SUBMITTER: Han E 

PROVIDER: S-EPMC4341071 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature