Work

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

Year: 2018

Type: article

Study design: Observational Study

Abstract: Genome-wide association studies have uncovered common variants at many loci influencing human complex traits, such as high-density lipoprotein cholesterol (HDL-C). However, the contribution of the identified genes is difficult to ascertain from current efforts interrogating common variants with small effects. Thus, there is a pressing need for scalable, cost-effective strategies for uncovering causal variants, many of which may be rare and noncoding.

Source: Circulation Genomic and Precision Medicine

DOI: 10.1161/circgen.117.002070

Authors: Sumeet A. Khetarpal, Paul L. Babb, Wei Zhao, William F. Hancock-Cerutti, Christopher D. Brown, Daniel J. Rader, Benjamin F. Voight

Institutions: University of Pennsylvania, Albert Einstein College of Medicine

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Chinese Academy of Agricultural Sciences, National Heart, Lung, and Blood Institute, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: ApoC-III: Structure-Function and Regulation of Triglyceride Metabolism, Epigenetic fine-mapping of cardiometabolic disease loci in the human liver, Genetics of Elevated High Density Lipoprotein Cholesterol, Algorithms to identify non-coding mutational burden and disease-relevant pathways, Discovery and Validation of Novel Loci Associated with HDL Function, HDL metabolism: Influence of extracellular lipases

OpenAlex ID: W2878283013

FWCI: 0.394

Cites: 78

Cited by: 6

Related to: 10