Widespread Purifying Selection at Polymorphic Sites in Human Protein-Coding Loci

Estimation of gene diversity (heterozygosity) at 1,442 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 t...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2003-12, Vol.100 (26), p.15754-15757
Hauptverfasser:	Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino acids Biological Sciences Chromosome Mapping Chromosomes, Human - genetics Conservatism Error rates Ethnicity Genetic diversity Genetic loci Genetic Variation Genetics Human populations Humans Mutation, Missense Negative selection Polymorphism, Genetic Polymorphism, Single Nucleotide - genetics Proteins Proteins - genetics Statistical median
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