Signals of Variation in Human Mutation Rate at Multiple Levels of Sequence Context.

ABSTRACT: Our understanding of the human mutation rate helps us build evolutionary models and interpret patterns of genetic variation observed in human populations. Recent work indicates that the frequencies of specific polymorphism types have been elevated in Europe, and that many more, subtler signatures of global polymorphism variation may yet remain unidentified. Here, we present an analysis of the 1000 Genomes Project supported by analysis in the Simons Genome Diversity Panel, suggesting additional putative signatures of mutation rate variation across populations and the extent to which they are shaped by local sequence context. First, we compiled a list of the most significantly variable polymorphism types in a cross-continental statistical test. Clustering polymorphisms together, we observe t

SUBMITTER: Aikens RC 

PROVIDER: S-EPMC6501879 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature