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Mar 13, 2018 · Deleterious genes are generally recessive alleles, yet the traits persist in populations despite natural selection. One theory holds that deleterious traits may be maintained by a mutation that keeps arising in a population (e.g., neurofibromatosis, which causes tumors of the nervous system).
Sep 8, 2018 · 1. GENETIC LOAD AND INBREEDING. Each genome carries deleterious mutations that can potentially affect fitness and health. According to population genetics theory, this mutational load depends on multiple factors such as mutation rate, demographic history, and selection.
Mar 15, 2023 · Deleterious mutations decrease reproductive fitness and are ubiquitous in genomes. Given that many organisms face ongoing threats of extinction, there is interest in elucidating the impact of deleterious variation on extinction risk and optimizing management strategies accounting for such mutations.
May 12, 2015 · This Review examines the frequency and patterns of deleterious alleles in the human genome and considers recent studies with conflicting findings on whether the mutation load, or burden of ...
Feb 28, 2013 · Here, starting from Maruyama's theoretical prediction (Maruyama T (1974), Am J Hum Genet USA 6:669–673) that a (slightly) deleterious allele is, on average, younger than a neutral allele segregating at the same frequency, we devised an approach to characterize selection based on allelic age.
Feb 21, 2020 · To test whether Alpine ibex showed evidence for purging of deleterious mutations, we calculated the relative number of derived alleles Rxy 28 for the different categories of mutations (Fig. 2d).
Dec 7, 2012 · We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 individuals in the 1000 Genomes Pilot Project and (2) current predictions and databases of deleterious variants.
