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Article

Widespread purifying selection at polymorphic sites in human protein-coding loci.

Proceedings of the National Academy of Sciences of the United States of America - 23 Dec 2003

Hughes Austin L, Packer Bernice, Welch Robert, Bergen Andrew W, Chanock Stephen J, Yeager Meredith

Abstract excerpt

Estimation of gene diversity (heterozygosity) at 1442 single-nucleotide polymorphism (SNP) loci in an ethnically diverse sample of humans revealed consistently reduced gene diversities at SNP loci causing amino acid changes, particularly those causing amino acid changes predicted to be disruptive to protein structure. The reduction of gene diversity at these SNP loci, in comparison to SNPs in the same genes not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 14660790
DOI: 10.1073/pnas.2536718100
PMCID: PMC307640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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