Article
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
PLoS genetics - 1 Jan 2013
Kiezun Adam, Pulit Sara L, Francioli Laurent C, van Dijk Freerk, Swertz Morris, Boomsma Dorret I, van Duijn Cornelia M, Slagboom P Eline, van Ommen G J B, Wijmenga Cisca, de Bakker Paul I W, Sunyaev Shamil R
Abstract excerpt
Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenotypes, and reproductive fitness. Most non-neutral variation consists of deleterious alleles segregating at low population frequency due to incessant mutation. To date,...
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