Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

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http://hdl.handle.net/10138/201579

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Xue , Y , Mezzavilla , M , Haber , M , McCarthy , S , Chen , Y , Narasimhan , V , Gilly , A , Ayub , Q , Colonna , V , Southam , L , Finan , C , Massaia , A , Chheda , H , Palta , P , Ritchie , G , Asimit , J , Dedoussis , G , Gasparini , P , Palotie , A , Ripatti , S , Soranzo , N , Toniolo , D , Wilson , J F , Durbin , R , Tyler-Smith , C & Zeggini , E 2017 , ' Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations ' , Nature Communications , vol. 8 , 15927 . https://doi.org/10.1038/ncomms15927

Title: Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Author: 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
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Clinicum
Date: 2017-06-23
Language: eng
Number of pages: 7
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/201579
Abstract: 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 general populations, together with published data from the 1000 Genomes Project and UK10K. Sequencing data give deeper and richer insights into population demography and genetic characteristics than genotype-chip data, distinguishing related populations more effectively and allowing their functional variants to be studied more fully. We demonstrate relaxation of purifying selection in the isolates, leading to enrichment of rare and low-frequency functional variants, using novel statistics, DVxy and SVxy. We also develop an isolation-index (Isx) that predicts the overall level of such key genetic characteristics and can thus help guide population choice in future complex-trait association studies.
Subject: LINKAGE DISEQUILIBRIUM
GENETIC-CHARACTERIZATION
RARE VARIANT
SIZE
ASSOCIATION
INDIVIDUALS
ADAPTATION
SELECTION
IDENTITY
DESCENT
3111 Biomedicine
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