Dataset Information

Illumina ExomeChip genotyping data from the Cretan Greek isolate collection HELIC MANOLIS

ABSTRACT: Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina HumanExome Beadchip. The HELIC (Hellenic Isolated Cohorts) MANOLIS (Minoan Isolates) collection focuses on Anogia and surrounding Mylopotamos villages. Recruitment of this population-based sample was primarily carried out at the village medical centres. All individuals were older than 17 years and had to have at least one parent from the Mylopotamos area. www.helic.org **The data may not be used for population genetics analyses.**

PROVIDER: EGAS00001000630 | EGA |

REPOSITORIES: EGA

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Publications

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

Tachmazidou Ioanna I Dedoussis George G Southam Lorraine L Farmaki Aliki-Eleni AE Ritchie Graham R S GR Xifara Dionysia K DK Matchan Angela A Hatzikotoulas Konstantinos K Rayner Nigel W NW Chen Yuan Y Pollin Toni I TI O'Connell Jeffrey R JR Yerges-Armstrong Laura M LM Kiagiadaki Chrysoula C Panoutsopoulou Kalliope K Schwartzentruber Jeremy J Moutsianas Loukas L Tsafantakis Emmanouil E Tyler-Smith Chris C McVean Gil G Xue Yali Y Zeggini Eleftheria E

Nature communications 20130101

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Greek population isolate on the Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids traits. We find genome-wide significant evidence for association between R19X, a functional variant in APOC3, with increased hig ...[more]

PMID: 24343240

Dataset Information

Illumina ExomeChip genotyping data from the Cretan Greek isolate collection HELIC MANOLIS

Publications

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

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