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Nat Genet. 2013 Aug;45(8):899-901. doi: 10.1038/ng.2671. Epub 2013 Jun 16.

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.

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1
Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA.

Abstract

We describe initial steps for interrogating whole-genome sequence data to characterize the genetic architecture of a complex trait, levels of high-density lipoprotein cholesterol (HDL-C). We report whole-genome sequencing and analysis of 962 individuals from the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. From this analysis, we estimate that common variation contributes more to heritability of HDL-C levels than rare variation, and screening for mendelian variants for dyslipidemia identified individuals with extreme HDL-C levels. Whole-genome sequencing analyses highlight the value of regulatory and non-protein-coding regions of the genome in addition to protein-coding regions.

PMID:
23770607
PMCID:
PMC4030301
DOI:
10.1038/ng.2671
[Indexed for MEDLINE]
Free PMC Article

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