Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.

ABSTRACT: Whole-genome sequencing (WGS) allows for a comprehensive view of the sequence of the human genome. We present and apply integrated methodologic steps for interrogating WGS data to characterize the genetic architecture of 10 heart- and blood-related traits in a sample of 1,860 African Americans. In order to evaluate the contribution of regulatory and non-protein coding regions of the genome, we conducted aggregate tests of rare variation across the entire genomic landscape using a sliding window, complemented by an annotation-based assessment of the genome using predefined regulatory elements and within the first intron of all genes. These tests were performed treating all variants equally as well as with individual variants weighted by a measure of predicted functional consequence. Signifi

SUBMITTER: Morrison AC 

PROVIDER: S-EPMC5294677 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature