Selective constraint, background selection, and mutation accumulation variability within and between human populations.

ABSTRACT:

Background

Regions of the genome that are under evolutionary constraint across multiple species have previously been used to identify functional sequences in the human genome. Furthermore, it is known that there is an inverse relationship between evolutionary constraint and the allele frequency of a mutation segregating in human populations, implying a direct relationship between interspecies divergence and fitness in humans. Here we utilise this relationship to test differences in the accumulation of putatively deleterious mutations both between populations and on the individual level.

Results

Using whole genome and exome sequencing data from Phase 1 of the 1000 Genome Project for 1,092 individuals from 14 worldwide populations we show that minor allele frequency (MAF) vari

SUBMITTER: Hodgkinson A 

PROVIDER: S-EPMC3727949 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature