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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2013
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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. |
format | Online Article Text |
id | pubmed-4030301 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
record_format | MEDLINE/PubMed |
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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