How much of the variation in the mutation rate along the human genome can be explained?

Eyre-Walker, Adam and Eyre-Walker, Ying Chen (2014) How much of the variation in the mutation rate along the human genome can be explained? G3: Genes, Genomes, Genetics, 4 (9). pp. 1667-1670. ISSN 2160-1836

[img]
Preview
PDF - Published Version
Available under License Creative Commons Attribution.

Download (644kB) | Preview

Abstract

It 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.

Item Type: Article
Schools and Departments: School of Life Sciences > Evolution, Behaviour and Environment
Subjects: Q Science > QH Natural history > QH0301 Biology > QH0426 Genetics > QH0460 Mutations
Depositing User: Adam Eyre-Walker
Date Deposited: 22 Sep 2014 10:31
Last Modified: 08 Mar 2017 19:35
URI: http://sro.sussex.ac.uk/id/eprint/50128

View download statistics for this item

📧 Request an update