Article
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.
Nature communications - 23 Jun 2017
Xue Yali, Mezzavilla Massimo, Haber Marc, McCarthy Shane, Chen Yuan, Narasimhan Vagheesh, Gilly Arthur, Ayub Qasim, Colonna Vincenza, Southam Lorraine, Finan Christopher, Massaia Andrea, Chheda Himanshu, Palta Priit, Ritchie Graham, Asimit Jennifer, Dedoussis George, Gasparini Paolo, Palotie Aarno, Ripatti Samuli, Soranzo Nicole, Toniolo Daniela, Wilson James F, Durbin Richard, Tyler-Smith Chris, Zeggini Eleftheria
Abstract excerpt
The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can help leverage these advantageous characteristics. Here, we perform a comprehensive investigation using 3,059 newly generated low-depth whole-genome sequences from eight European isolates and two matched...
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