publication . Other literature type . Article . 2011

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

Kevin V. Shianna; Samuel P. Dickson; Mingfu Zhu; Qianqian Zhu; Erin L. Heinzen; David Goldstein; Jessica M. Maia; Slavé Petrovski; Slavé Petrovski; Dongliang Ge;
Open Access English
  • Published: 01 Apr 2011
  • Publisher: Elsevier
Abstract
One of the longest running debates in evolutionary biology concerns the kind of genetic variation that is primarily responsible for phenotypic variation in species. Here, we address this question for humans specifically from the perspective of population allele frequency of variants across the complete genome, including both coding and noncoding regions. We establish simple criteria to assess the likelihood that variants are functional based on their genomic locations and then use whole-genome sequence data from 29 subjects of European origin to assess the relationship between the functional properties of variants and their population allele frequencies. We find...
Subjects
free text keywords: Article, Genetics(clinical), Genetics, Allele frequency, Allele, Population, education.field_of_study, education, Common disease-common variant, Genome-wide association study, Biology, Genetic variation, Balancing selection, Genome
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