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

John J Connolly; Joseph T Glessner; Berta Almoguera; David R Crosslin; Gail P Jarvik; Patrick M Sleiman; Hakon Hakonarson

doi:10.3389/fgene.2014.00051

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

Front Genet. 2014 Mar 18:5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014.

Authors

John J Connolly¹, Joseph T Glessner², Berta Almoguera¹, David R Crosslin³, Gail P Jarvik³, Patrick M Sleiman², Hakon Hakonarson²

Affiliations

¹ The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA.
² The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.
³ Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington Medical Center Seattle, WA, USA.

Abstract

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; eMERGE; review; structural variation.

Publication types

Review

Abstract

Publication types

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