Copy Number Variation Analysis in the Context of Electronic Medical Records & 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...
Main Authors: | John J Connolly, Joseph T Glessner, Berta eAlmoguera, David R Crosslin, Gail P Jarvik, Patrick eSleiman, Hakon eHakonarson |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2014-03-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00051/full |
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