Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

ABSTRACT: Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a dif

SUBMITTER: Tachmazidou I 

PROVIDER: S-EPMC5473732 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature