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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Copy number variation (CNV) analysis has had a major impact on the field of medical genetics, providing a mechanism to identify disease-causing genomic alterations in an unprecedented number of diseases and phenotypes. CNV analysis is now routinely used in the clinical diagnostic laboratory, and has...

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Detalles Bibliográficos
Autores principales: Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580449/
https://www.ncbi.nlm.nih.gov/pubmed/23114084
http://dx.doi.org/10.1186/gm381