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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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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 |