Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(n...Expand abstract
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- Copyright © 2014 by The American Society of Human Genetics. Under Elsevier user license.
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