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The reason for this discrepancy is unclear but one possible explanation is that the latter study measured selection pressure by measuring the frequency of variants in optimal epitopes in subjects with the presenting allele compared with subjects lacking the presenting allele arguing that a high frequency of variants in subjects without the presenting allele was evidence of a low fitness cost.
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These mutations were selected due to the relatively high frequency of allelic variants containing these mutations among Caucasian individuals, as compared to other mutated gene variants (Sata et al, 2000; Cavalli et al, 2001; Eiselt et al, 2001; Hsieh et al, 2001).
The authors suggest that these genetic variants might cause subtle differences in brain structure related to pitch perception, and that populations that harbored a high frequency of the variants might have been more likely to develop nontonal languages.
The stringent clinical follow up and large number of APN prone patients probably explains the high frequency of CXCR1 variants and of reduced CXCR1 expression.
12 Recently, a high frequency of SLC22A12 variants (c.1245_1253del and c.1400C>T; 1.87% and 5.56%, respectively) which contribute to renal hypouricaemia was reported in the Roma population.
We hypothesized that the presence of a high frequency of pharmacogenomic variants and drug interactions for AChEIs would support the need to pursue focused approaches to personalize pharmacotherapy and optimize efficacy-to-toxicity ratios for these vulnerable populations.
The high frequency of HGMD/ClinVar variants is most likely because they have already been seen in other studies, which increases the prior probability of observing this variant again in a sample from the general population.
The high frequency of mtDNA variants that is often detected in cancer samples may also be a great obstacle to select few candidates to bring forward to functional studies, with the aim to assess in which way they may impact metabolism.
Our finding suggests that women of Ashkenazi Jewish ancestry may have unique genetic variant(s) or higher frequencies of variants that predispose to higher adjusted PMD.
Given the high frequency of the variant in Inuit populations pointing to an historical advantage, the current clinical significance of the variant remains unclear.
The high frequency of MBL-variant alleles in different populations indicates that these polymorphisms represent a balanced genetic system favoring variant alleles arising from genetic selection.
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