Article

Germline <i>de novo</i> mutation rates on exons versus introns in humans

2019-12-23

Abstract excerpt

A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared to introns in somatic cells. This reduction was ascribed to an enhanced exonic mismatch repair system activity. If this reduction happens also in the germline, it can compromise studies of popu...

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Literature Corpus work: b0cf04d3-0074-5e71-a674-e5b6fbd624e7
DOI: 10.1101/2019.12.23.886879

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