Article
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.
Nature communications - 6 Nov 2014
Panoutsopoulou Kalliope, Hatzikotoulas Konstantinos, Xifara Dionysia Kiara, Colonna Vincenza, Farmaki Aliki-Eleni, Ritchie Graham R S, Southam Lorraine, Gilly Arthur, Tachmazidou Ioanna, Fatumo Segun, Matchan Angela, Rayner Nigel W, Ntalla Ioanna, Mezzavilla Massimo, Chen Yuan, Kiagiadaki Chrysoula, Zengini Eleni, Mamakou Vasiliki, Athanasiadis Antonis, Giannakopoulou Margarita, Kariakli Vassiliki-Eirini, Nsubuga Rebecca N, Karabarinde Alex, Sandhu Manjinder, McVean Gil, Tyler-Smith Chris, Tsafantakis Emmanouil, Karaleftheri Maria, Xue Yali, Dedoussis George, Zeggini Eleftheria
Abstract excerpt
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...
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