Article
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.
Nature genetics - 1 Dec 2023
Seplyarskiy Vladimir, Koch Evan M, Lee Daniel J, Lichtman Joshua S, Luan Harding H, Sunyaev Shamil R
Abstract excerpt
De novo mutations occur at substantially different rates depending on genomic location, sequence context and DNA strand. The success of methods to estimate selection intensity, infer demographic history and map rare disease genes, depends strongly on assumptions about the local mutation rate. Here we present Roulette, a genome-wide mutation rate model at basepair resolution that incorporates known determinants of...
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