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Quantifying harmful mutations in human populations
Journal article   Peer reviewed

Quantifying harmful mutations in human populations

Sankar Subramanian
European Journal of Human Genetics, Vol.20(12), pp.1320-1322
2012
DOI: https://doi.org/10.1038/ejhg.2012.68
url
https://doi.org/10.1038/ejhg.2012.68View
Published Version

Abstract

human evolution deleterious mutations disease-associated mutations genome-wide association rare and common variants SNP and population genetics theory
A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous single-nucleotide polymorphisms (nSNPs) in human populations. However, the proportions of deleterious nSNPs among rare and common variants are not known. To estimate these, >77 000 SNPs from human protein-coding genes were analyzed. Based on two independent methods, this study reveals that up to 53% of rare nSNPs (minor allele frequency (MAF)<0.002) could be deleterious in nature. The fraction of deleterious nSNPs declines with the increase in their allele frequencies and only 12% of the common nSNPs (MAF>0.4) were found to be harmful. This shows that even at high frequencies significant fractions of deleterious polymorphisms are present in human populations. These results could be useful for genome-wide association studies in understanding the relative contributions of rare and common variants in causing human genetic diseases. © 2012 Macmillan Publishers Limited All rights reserved.

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