Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol

We describe initial steps for interrogating whole genome sequence (WGS) data to characterize the genetic architecture of a complex trait, such as high density lipoprotein cholesterol (HDL-C). We estimate that common variation contributes more to HDL-C heritability than rare variation, and screening...

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Detalles Bibliográficos
Autores principales: Morrison, Alanna C., Voorman, Arend, Johnson, Andrew D., Liu, Xiaoming, Yu, Jin, Li, Alexander, Muzny, Donna, Yu, Fuli, Rice, Kenneth, Zhu, Chengsong, Bis, Joshua, Heiss, Gerardo, O’Donnell, Christopher J., Psaty, Bruce M., Cupples, L. Adrienne, Gibbs, Richard, Boerwinkle, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030301/
https://www.ncbi.nlm.nih.gov/pubmed/23770607
http://dx.doi.org/10.1038/ng.2671
Descripción
Sumario:We describe initial steps for interrogating whole genome sequence (WGS) data to characterize the genetic architecture of a complex trait, such as high density lipoprotein cholesterol (HDL-C). We estimate that common variation contributes more to HDL-C heritability than rare variation, and screening for Mendelian dyslipidemia variants identified individuals with extreme HDL-C. WGS analyses highlight the value of regulatory and non-protein coding regions of the genome in addition to protein coding regions.

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