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- W2090216893 abstract "Abstract Isolated populations are emerging as a powerful study design in the search for low-frequency and rare variant associations with complex phenotypes. Here we genotype 2,296 samples from two isolated Greek populations, the Pomak villages (HELIC-Pomak) in the North of Greece and the Mylopotamos villages (HELIC-MANOLIS) in Crete. We compare their genomic characteristics to the general Greek population and establish them as genetic isolates. In the MANOLIS cohort, we observe an enrichment of missense variants among the variants that have drifted up in frequency by more than fivefold. In the Pomak cohort, we find novel associations at variants on chr11p15.4 showing large allele frequency increases (from 0.2% in the general Greek population to 4.6% in the isolate) with haematological traits, for example, with mean corpuscular volume (rs7116019, P =2.3 × 10 −26 ). We replicate this association in a second set of Pomak samples (combined P =2.0 × 10 −36 ). We demonstrate significant power gains in detecting medical trait associations." @default.
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- W2090216893 date "2014-11-06" @default.
- W2090216893 modified "2023-10-13" @default.
- W2090216893 title "Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants" @default.
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- W2090216893 cites W2021604568 @default.
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- W2090216893 cites W2026187919 @default.
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- W2090216893 cites W2139826725 @default.
- W2090216893 cites W2140247198 @default.
- W2090216893 cites W2142405569 @default.
- W2090216893 cites W2144286635 @default.
- W2090216893 cites W2147311167 @default.
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- W2090216893 doi "https://doi.org/10.1038/ncomms6345" @default.
- W2090216893 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4242463" @default.
- W2090216893 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25373335" @default.
- W2090216893 hasPublicationYear "2014" @default.
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