AUTHOR=Connolly John J., Glessner Joseph T., Almoguera Berta , Crosslin David R., Jarvik Gail P., Sleiman Patrick , Hakonarson Hakon 

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

JOURNAL=Frontiers in Genetics

VOLUME=5

YEAR=2014

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2014.00051

DOI=10.3389/fgene.2014.00051

ISSN=1664-8021

ABSTRACT=<p>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.</p>