Article
Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans.
PLoS genetics - 1 Mar 2018
Smith Thomas C A, Arndt Peter F, Eyre-Walker Adam
Abstract excerpt
It has long been suspected that the rate of mutation varies across the human genome at a large scale based on the divergence between humans and other species. However, it is now possible to directly investigate this question using the large number of de novo mutations (DNMs) that have been discovered in humans through the sequencing of trios. We investigate a number of questions pertaining to the distribution of...
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