Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

2012158 citationsJournal Articlehybrid Open Access

Authors

D.E.S.I.R. Study Group · University of Copenhagen

Anders Albrechtsen · University of Copenhagen

Niels Grarup · BGI Group (China)

Y. Li · BGI Group (China)

Thomas Sparsø · University of Copenhagen

Geng Tian · BGI Group (China)

Hongzhi Cao · BGI Group (China)

Abstract

We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.

Topics & Keywords

Genomics and Rare Diseases Bioinformatics and Genomic Networks Genetic Associations and Epidemiology

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Diabetologia

Volume 56, Issue 2, pp. 298-310

DOI: 10.1007/s00125-012-2756-1

Field-Weighted Citation Impact: 10.35