Sentences with phrase «deleterious variants»

The phrase "deleterious variants" refers to harmful or negative changes or mutations in genes that can cause negative effects or diseases in an organism. Full definition
The human population size has historically been much larger, and this is important since selection is more efficient at removing deleterious variants in large populations.
This genotyping assay was more successful than traditional GWAS because it included variants identified by sequenc ing that are not included on traditional arrays, most notably in / dels, leading to association of deleterious variants that would not have been identified by GWAS.
Our results are compatible with a scenario where the Neanderthal genome accumulated many weakly deleterious variants, because selection was not effective in the small Neanderthal populations.
Moreover, overrepresentation of a popular sire's genome risks the widespread dissemination of monogenetic inherited disorders by inflating the allele frequency of recessive deleterious variants carried by the sire and increasing the probability of identity by descent of undesirable alleles in his descendants [18,20,21].
When coupled with phenotype data, such cohorts also provide greater power to study rare, deleterious variants in populations enriched for them.
Therefore, a weakly deleterious variants that could persist in Neanderthals could not persist in humans.
Once in the larger human population, those deleterious variants were slowly purged by natural selection.
Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.
Rogers» findings could have implications for how different sets of these deleterious variants made their way into our genome.
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