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
Affiliations
- Yali Xue
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Massimo Mezzavilla
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Marc Haber
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Shane McCarthy
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Yuan Chen
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Vagheesh Narasimhan
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Arthur Gilly
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Qasim Ayub
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Vincenza Colonna
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Lorraine Southam
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Christopher Finan
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Andrea Massaia
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Himanshu Chheda
- Institute for Molecular Medicine Finland (FIMM), University of Helsinki
- Priit Palta
- Institute for Molecular Medicine Finland (FIMM), University of Helsinki
- Graham Ritchie
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Jennifer Asimit
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- George Dedoussis
- Department of Nutrition and Dietetics, Harokopio University Athens
- Paolo Gasparini
- Medical Genetics, DSM, University of Trieste and IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Burlo Garofolo Children Hospital
- Aarno Palotie
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Samuli Ripatti
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Nicole Soranzo
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Daniela Toniolo
- Division of Genetics and Cell Biology, San Raffaele Scientific Institute
- James F. Wilson
- MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital
- Richard Durbin
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Chris Tyler-Smith
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- Eleftheria Zeggini
- The Wellcome Trust Sanger Institute, Wellcome Genome Campus
- DOI
- https://doi.org/10.1038/ncomms15927
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 7
Abstract
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.