Article
Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.
Human molecular genetics - 1 Jun 2016
Gilly Arthur, Ritchie Graham Rs, Southam Lorraine, Farmaki Aliki-Eleni, Tsafantakis Emmanouil, Dedoussis George, Zeggini Eleftheria
Abstract excerpt
Cohort-wide very low-depth whole-genome sequencing (WGS) can comprehensively capture low-frequency sequence variation for the cost of a dense genome-wide genotyping array. Here, we analyse 1x sequence data across the APOC3 gene in a founder population from the island of Crete in Greece (n = 1239) and find significant evidence for association with blood triglyceride levels with the previously reported R19X...
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