Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

@article{Boyko2008AssessingTE,
  title={Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome},
  author={Adam R. Boyko and Susannah L. Williamson and Amit R. Indap and Jeremiah D. Degenhardt and Ryan D. Hernandez and Kirk E. Lohmueller and Mark D. Adams and Steffen A. Schmidt and John Sninsky and Shamil R. Sunyaev and Thomas Jefferson White and Rasmus Nielsen and Andrew G. Clark and Carlos D. Bustamante},
  journal={PLoS Genetics},
  year={2008},
  volume={4},
  pages={610 - 618. (doi: 10.1038/nrg2146)}
}
Quantifying the distribution of fitness effects among newly arising mutations in the human genome is key to resolving important debates in medical and evolutionary genetics. Here, we present a method for inferring this distribution using Single Nucleotide Polymorphism (SNP) data from a population with non-stationary demographic history (such as that of modern humans). Application of our method to 47,576 coding SNPs found by direct resequencing of 11,404 protein coding-genes in 35 individuals… CONTINUE READING

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