Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome.

ABSTRACT: Elucidating the mechanisms of mutation accumulation and fixation is critical to understand the nature of genetic variation and its contribution to genome evolution. Of particular interest is the effect of insertions and deletions (indels) on the evolution of genome landscapes. Recent population-scaled sequencing efforts provide unprecedented data for analyzing the relative impact of selection versus nonadaptive forces operating on indels. Here, we combined McDonald-Kreitman tests with the analysis of derived allele frequency spectra to investigate the dynamics of allele fixation of short (1-50 bp) indels in the human genome. Our analyses revealed apparently higher fixation probabilities for insertions than deletions. However, this fixation bias is not consistent with either selection or bi

SUBMITTER: Kvikstad EM 

PROVIDER: S-EPMC3879449 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature