Nature Communications (Jun 2017)

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

  • Yali Xue,
  • Massimo Mezzavilla,
  • Marc Haber,
  • Shane McCarthy,
  • Yuan Chen,
  • Vagheesh Narasimhan,
  • Arthur Gilly,
  • Qasim Ayub,
  • Vincenza Colonna,
  • Lorraine Southam,
  • Christopher Finan,
  • Andrea Massaia,
  • Himanshu Chheda,
  • Priit Palta,
  • Graham Ritchie,
  • Jennifer Asimit,
  • George Dedoussis,
  • Paolo Gasparini,
  • Aarno Palotie,
  • Samuli Ripatti,
  • Nicole Soranzo,
  • Daniela Toniolo,
  • James F. Wilson,
  • Richard Durbin,
  • Chris Tyler-Smith,
  • Eleftheria Zeggini

DOI
https://doi.org/10.1038/ncomms15927
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 7

Abstract

Read online

Isolated populations often have special genetic compositions that can be leveraged for genetic association studies. Here, Xue and colleagues generate and analyse 3,059 low-depth whole-genome sequences from eight European isolated populations and two matched general populations.