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How much of the variation in the mutation rate along the human genome can be explained?
journal contribution
posted on 2023-06-08, 18:22 authored by Adam Eyre-WalkerAdam Eyre-Walker, Ying Chen Eyre-WalkerIt has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 143121442]. 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 there could be substantial unexplained variance in the mutation rate. We investigate whether the model of Michaelson et al. captures variation at the single nucleotide level that is not due to simple context. We show that the model captures a substantial fraction of this variation at CpG dinucleotides but fails to explain much of the variation at non-CpG sites.
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Publication status
- Published
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- Published version
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G3ISSN
2160-1836Publisher
Genetics Society of America.External DOI
Issue
9Volume
4Page range
1667-1670Department affiliated with
- Evolution, Behaviour and Environment Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2014-09-22First Open Access (FOA) Date
2014-09-22First Compliant Deposit (FCD) Date
2014-09-22Usage metrics
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