title: Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.
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.
authors.affiliation: The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA.
authors.forename: John J
authors.initials: JJ
authors.lastname: Connolly
authors.affiliation: 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.
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Glessner
authors.affiliation: The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA.
authors.forename: Berta
authors.initials: B
authors.lastname: Almoguera
authors.affiliation: Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington Medical Center Seattle, WA, USA.
authors.forename: David R
authors.initials: DR
authors.lastname: Crosslin
authors.affiliation: Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington Medical Center Seattle, WA, USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
authors.affiliation: 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.
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Sleiman
authors.affiliation: 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.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
keywords: CNV; copy number; eMERGE; review; structural variation