Estimating the mutation load in human genomes

@article{Henn2015EstimatingTM,
  title={Estimating the mutation load in human genomes},
  author={Brenna M Henn and Laura R. Botigu{\'e} and Carlos Daniel Bustamante and Andrew G. Clark and Simon Gravel},
  journal={Nature Reviews Genetics},
  year={2015},
  volume={16},
  pages={333-343}
}
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… CONTINUE READING
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