Nature Communications (Nov 2018)
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
- Arthur Gilly,
- Daniel Suveges,
- Karoline Kuchenbaecker,
- Martin Pollard,
- Lorraine Southam,
- Konstantinos Hatzikotoulas,
- Aliki-Eleni Farmaki,
- Thea Bjornland,
- Ryan Waples,
- Emil V. R. Appel,
- Elisabetta Casalone,
- Giorgio Melloni,
- Britt Kilian,
- Nigel W. Rayner,
- Ioanna Ntalla,
- Kousik Kundu,
- Klaudia Walter,
- John Danesh,
- Adam Butterworth,
- Inês Barroso,
- Emmanouil Tsafantakis,
- George Dedoussis,
- Ida Moltke,
- Eleftheria Zeggini
Affiliations
- Arthur Gilly
- Department of Human Genetics, Wellcome Sanger Institute
- Daniel Suveges
- Department of Human Genetics, Wellcome Sanger Institute
- Karoline Kuchenbaecker
- Department of Human Genetics, Wellcome Sanger Institute
- Martin Pollard
- Department of Human Genetics, Wellcome Sanger Institute
- Lorraine Southam
- Department of Human Genetics, Wellcome Sanger Institute
- Konstantinos Hatzikotoulas
- Department of Human Genetics, Wellcome Sanger Institute
- Aliki-Eleni Farmaki
- Department of Health Sciences, College of Life Sciences, University of Leicester
- Thea Bjornland
- Department of Mathematical Sciences, Norwegian Institute of Science and Technology
- Ryan Waples
- The Bioinformatics Centre, Department of Biology, University of Copenhagen
- Emil V. R. Appel
- Section for Metabolic Genetics, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen
- Elisabetta Casalone
- Human Genetics Foundation, University of Torino
- Giorgio Melloni
- Department of Biomedical Informatics, Harvard Medical School
- Britt Kilian
- Department of Human Genetics, Wellcome Sanger Institute
- Nigel W. Rayner
- Department of Human Genetics, Wellcome Sanger Institute
- Ioanna Ntalla
- William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
- Kousik Kundu
- Department of Human Genetics, Wellcome Sanger Institute
- Klaudia Walter
- Department of Human Genetics, Wellcome Sanger Institute
- John Danesh
- Department of Human Genetics, Wellcome Sanger Institute
- Adam Butterworth
- The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, University of Cambridge
- Inês Barroso
- Department of Human Genetics, Wellcome Sanger Institute
- Emmanouil Tsafantakis
- Anogia Medical Centre
- George Dedoussis
- Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens
- Ida Moltke
- The Bioinformatics Centre, Department of Biology, University of Copenhagen
- Eleftheria Zeggini
- Department of Human Genetics, Wellcome Sanger Institute
- DOI
- https://doi.org/10.1038/s41467-018-07070-8
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 9
Abstract
Rare genetic variants can contribute to complex traits but this contribution is not well understood. Here, the authors analyse deep whole genome sequencing data across 1457 individuals from an isolated Greek population and find association of rare variant burdens with cardiometabolic traits.
