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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Autores principales: Connolly, John J., Glessner, Joseph T., Almoguera, Berta, Crosslin, David R., Jarvik, Gail P., Sleiman, Patrick M., Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/
https://www.ncbi.nlm.nih.gov/pubmed/24672537
http://dx.doi.org/10.3389/fgene.2014.00051
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author Connolly, John J.
Glessner, Joseph T.
Almoguera, Berta
Crosslin, David R.
Jarvik, Gail P.
Sleiman, Patrick M.
Hakonarson, Hakon
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.
collection PubMed
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.
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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 Front Genet 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.
spellingShingle Genetics
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
title 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_short 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
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/
https://www.ncbi.nlm.nih.gov/pubmed/24672537
http://dx.doi.org/10.3389/fgene.2014.00051
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