Nature Communications (May 2017)

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

  • Lorraine Southam,
  • Arthur Gilly,
  • Dániel Süveges,
  • Aliki-Eleni Farmaki,
  • Jeremy Schwartzentruber,
  • Ioanna Tachmazidou,
  • Angela Matchan,
  • Nigel W. Rayner,
  • Emmanouil Tsafantakis,
  • Maria Karaleftheri,
  • Yali Xue,
  • George Dedoussis,
  • Eleftheria Zeggini

DOI
https://doi.org/10.1038/ncomms15606
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 11

Abstract

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Isolated populations can provide useful information on low-frequency variants for dissecting genetic architecture of complex traits. Here, Zeggini and colleagues show enrichment of rare and low-frequency variants and 8 novel low-frequency variant signals for cardiometabolic traits in two Greek isolated populations