Exact(12)
A signature of positive selection is indicated by unusually long haplotypes and high population frequency [ 14].
This high population frequency persists despite strong selective pressure against mutation-bearing chromosomes.
The high population frequency of these elements is not surprising because they were retrieved from multiple populations during the cloning.
This case is unusual, in that a SNP with a massive effect on the odds ratio nevertheless showed a high population frequency for the disease-predisposing base.
This pattern was not significant when we only considered nonsingletons because such alleles are likely to be less deleterious due to their high population frequency.
Based on the assumption that adaptive mutations are likely to be dominant, positive selection should drive these mutations to high population frequency removing genetic variation at linked sites and thus leaving characteristic molecular signatures of complete selective sweeps.
Similar(48)
Five BACs with expected high population frequencies in the CNV regions were selected for further investigation of ten healthy individuals.
Therefore, disease gene variation taking the form of cis-acting eQTLs may have a narrower allelic spectrum toward high population frequencies, as predicted by the common diseases/common variant (CDCV) model that genetic risk of common diseases is often conferred by alleles having relatively high frequencies [32].
Approximately 30% of breast cancer risk is inherited [ 1], the majority of which is controlled by modifier genetic elements individually having low genetic penetrance, but high population frequencies [ 2].
In pufferfish, the majority of the nLTR-RT insertions that were studied were found at middle or high population frequencies, which suggests that these elements are not subjected to strong purifying selection.
The allele with the higher population frequency was overtransmitted in the TDT analysis, whereas one might expect a rare recessive allele to confer susceptibility to an uncommon phenotype such as CHD.
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