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Increasing the diagnostic yield of exome sequencing by copy number variant analysis

As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clin...

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Detalles Bibliográficos
Autores principales:	Marchuk, Daniel S., Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V., Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R., Bizon, Chris, Vora, Neeta L., Wilhelmsen, Kirk C., Evans, James P., Berg, Jonathan S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296659/ https://www.ncbi.nlm.nih.gov/pubmed/30557390 http://dx.doi.org/10.1371/journal.pone.0209185

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