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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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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:
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
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author 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
author_facet 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
author_sort Morrison, Alanna C.
collection PubMed
description 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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spelling pubmed-40303012014-05-22 Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol 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 Nat Genet Article 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. 2013-06-16 2013-08 /pmc/articles/PMC4030301/ /pubmed/23770607 http://dx.doi.org/10.1038/ng.2671 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
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
Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title_full Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title_fullStr Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title_full_unstemmed Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title_short Whole Genome Sequence-Based Analysis of a Model Complex Trait, High Density Lipoprotein Cholesterol
title_sort whole genome sequence-based analysis of a model complex trait, high density lipoprotein cholesterol
topic Article
url 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
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