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• W1573669151 endingPage "343" @default.
• W1573669151 startingPage "333" @default.
• W1573669151 abstract "Next-generation sequencing technology has facilitated the discovery of millions of genetic variants in human genomes. A sizeable fraction of these variants are predicted to be deleterious. Here, we review the pattern of deleterious alleles as ascertained in genome sequencing data sets and ask whether human populations differ in their predicted burden of deleterious alleles - a phenomenon known as mutation load. We discuss three demographic models that are predicted to affect mutation load and relate these models to the evidence (or the lack thereof) for variation in the efficacy of purifying selection in diverse human genomes. We also emphasize why accurate estimation of mutation load depends on assumptions regarding the distribution of dominance and selection coefficients - quantities that remain poorly characterized for current genomic data sets." @default.
• W1573669151 created "2016-06-24" @default.
• W1573669151 creator A5002177095 @default.
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• W1573669151 creator A5025246130 @default.
• W1573669151 creator A5041870835 @default.
• W1573669151 creator A5042388690 @default.
• W1573669151 date "2015-05-12" @default.
• W1573669151 modified "2023-10-14" @default.
• W1573669151 title "Estimating the mutation load in human genomes" @default.
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• W1573669151 doi "https://doi.org/10.1038/nrg3931" @default.

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