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Nature Research, Nature Genetics, 11(48), p. 1303-1312

DOI: 10.1038/ng.3668

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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Journal article published in 2016 by Valentina Iotchkova ORCID, Valentina Lotchkova, Jie Huang, John A. (John A) Morris ORCID, Deepti Jain, Caterina Barbieri, Klaudia Walter ORCID, Josine L. Min, Lu Chen ORCID, William J. Astle, Massimilian Cocca ORCID, Patrick Deelen ORCID, Heather Elding, M. (Mattias) Frånberg, Aliki-Eleni Farmaki and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole-genome sequence data from the UK10K and 1000 Genomes Project into 35,981 study participants of European ancestry, followed by association analysis with 20 quantitative cardiometabolic and hematological traits. We describe 17 new associations, including 6 rare (minor allele frequency (MAF)