Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best levera...

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Main Authors:	Connolly, John J., Glessner, Joseph T., Almoguera, Berta, Crosslin, David R., Jarvik, Gail P., Sleiman, Patrick M., Hakonarson, Hakon
Format:	Online
Language:	English
Published:	Frontiers Media S.A. 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/

id	pubmed-3957100
recordtype	oai_dc
spelling	pubmed-39571002014-03-26 Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts Connolly, John J. Glessner, Joseph T. Almoguera, Berta Crosslin, David R. Jarvik, Gail P. Sleiman, Patrick M. Hakonarson, Hakon Genetics The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history. Frontiers Media S.A. 2014-03-18 /pmc/articles/PMC3957100/ /pubmed/24672537 http://dx.doi.org/10.3389/fgene.2014.00051 Text en Copyright © 2014 Connolly, Glessner, Almoguera, Crosslin, Jarvik, Sleiman and Hakonarson. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Connolly, John J. Glessner, Joseph T. Almoguera, Berta Crosslin, David R. Jarvik, Gail P. Sleiman, Patrick M. Hakonarson, Hakon
spellingShingle	Connolly, John J. Glessner, Joseph T. Almoguera, Berta Crosslin, David R. Jarvik, Gail P. Sleiman, Patrick M. Hakonarson, Hakon Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
author_facet	Connolly, John J. Glessner, Joseph T. Almoguera, Berta Crosslin, David R. Jarvik, Gail P. Sleiman, Patrick M. Hakonarson, Hakon
author_sort	Connolly, John J.
title	Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
title_short	Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
title_full	Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
title_fullStr	Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
title_full_unstemmed	Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
title_sort	copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
description	The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history.
publisher	Frontiers Media S.A.
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/
_version_	1612068649620733952

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

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