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.
Keywords: CNV, copy number, structural variation, eMERGE, review
Citation: Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM and Hakonarson H (2014) Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Front. Genet. 5:51. doi: 10.3389/fgene.2014.00051
Received: 13 December 2013; Accepted: 18 February 2014;
Published online: 18 March 2014.
Edited by:Marylyn D. Ritchie, Pennsylvania State University, USA
Reviewed by:Lifeng Tian, University of Pennsylvania, USA
Copyright © 2014 Connolly, Glessner, Almoguera, Crosslin, Jarvik, Sleiman and Hakonarson. 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.
*Correspondence: Hakon Hakonarson, The Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA e-mail: firstname.lastname@example.org