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The mutation rate in human evolution and demographic inference

View ORCID ProfileAylwyn Scally
doi: https://doi.org/10.1101/061226
Aylwyn Scally
Department of Genetics, University of Cambridge Downing Street, Cambridge, CB2 3EH, United Kingdom
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Abstract

The germline mutation rate has long been a major source of uncertainty in human evolutionary and demographic analyses based on genetic data, but estimates have improved substantially in recent years. I discuss our current knowledge of the mutation rate in humans and the underlying biological factors affecting it, which include generation time, parental age and other developmental and reproductive timescales. There is good evidence for a slowdown in mean mutation rate during great ape evolution, but not for a more recent change within the timescale of human genetic diversity. Hence, pending evidence to the contrary, it is reasonable to use a present-day rate of approximately 0.5 × 10−9 bp−1 yr−1 in all human or hominin demographic analyses.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted June 29, 2016.
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The mutation rate in human evolution and demographic inference
Aylwyn Scally
bioRxiv 061226; doi: https://doi.org/10.1101/061226
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The mutation rate in human evolution and demographic inference
Aylwyn Scally
bioRxiv 061226; doi: https://doi.org/10.1101/061226

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