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Article

Assessing the evolutionary impact of amino acid mutations in the human genome.

PLoS genetics - 30 May 2008

Boyko Adam R, Williamson Scott H, Indap Amit R, Degenhardt Jeremiah D, Hernandez Ryan D, Lohmueller Kirk E, Adams Mark D, Schmidt Steffen, Sninsky John J, Sunyaev Shamil R, White Thomas J, Nielsen Rasmus, Clark Andrew G, Bustamante Carlos D

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 18516229
DOI: 10.1371/journal.pgen.1000083
PMCID: PMC2377339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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