Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans [Original Articles]

Conclusions:
Our targeted resequencing of individuals at the HDL-C phenotypic extremes offers a novel, efficient, and cost-effective approach for identifying rare coding and noncoding variation differences in extreme phenotypes and supports the rationale for applying this methodology to uncover rare variation—particularly noncoding variation—underlying myriad complex traits.

Source: Circulation: Cardiovascular Genetics - July 9, 2018 Category: Cardiology Authors: Khetarpal, S. A., Babb, P. L., Zhao, W., Hancock-Cerutti, W. F., Brown, C. D., Rader, D. J., Voight, B. F. Tags: Basic Science Research, Gene Expression & Regulation, Genetic, Association Studies, Genetics, Functional Genomics Original Articles Source Type: research