Article
The influence of genomic context on mutation patterns in the human genome inferred from rare variants.
Genome research - 1 Dec 2013
Schaibley Valerie M, Zawistowski Matthew, Wegmann Daniel, Ehm Margaret G, Nelson Matthew R, St Jean Pamela L, Abecasis Gonçalo R, Novembre John, Zöllner Sebastian, Li Jun Z
Abstract excerpt
Understanding patterns of spontaneous mutations is of fundamental interest in studies of human genome evolution and genetic disease. Here, we used extremely rare variants in humans to model the molecular spectrum of single-nucleotide mutations. Compared to common variants in humans and human-chimpanzee fixed differences (substitutions), rare variants, on average, arose more recently in the human lineage and are...
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