Copy number variation analysis in the context of electronic medical records and 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...

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Detalles Bibliográficos
Autores principales: Connolly, John J., Glessner, Joseph T., Almoguera, Berta, Crosslin, David R., Jarvik, Gail P., Sleiman, Patrick M., Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/
https://www.ncbi.nlm.nih.gov/pubmed/24672537
http://dx.doi.org/10.3389/fgene.2014.00051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100/
https://www.ncbi.nlm.nih.gov/pubmed/24672537
http://dx.doi.org/10.3389/fgene.2014.00051

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