Can we predict the mutation rate at the single nucleotide scale in the human genome?

2013/10/29 by Adam Eyre‐Walker, Adam Eyre-Walker, Ying Chen +2 · 1 voice
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Evolution and Genetic Dynamics #FOS: Biological sciences #Genomics (q-bio.GN) #Genomics and Rare Diseases #q-bio.GN

paper · pdf · doi:10.48550/arxiv.1310.7802

arxiv created 2013/10/29 · openalex publication_date 2013/10/29 · arxiv published 2013/10/29 · arxiv updated 2013/10/29 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/28

Abstract

It has been recently claimed that it is possible to predict the rate of de novo mutation of each site in the human genome with almost perfect accuracy (Michaelson et al. (2012) Cell, 151, 1431-1442). We show that this claim is unwarranted. By considering the correlation between the rate of de novo mutation and the predictions from the model of Michaelson et al., we show that there could be substantial unexplained variance in the mutation rate. We also demonstrate that the model of Michaelson et al. fails to capture a major component of the variation in the mutation rate, that which is local but not associated with simple context.

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• Can we predict the mutation rate at the single nucleotide scale in the human genome? http://arxiv.org/abs/1310.7802 [bsky, 0 points, 0 comments]

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