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Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data

It is becoming increasingly necessary to develop computerized methods for identifying the few disease-causing variants from hundreds discovered in each individual patient. This problem is especially relevant for Copy Number Variants (CNVs), which can be cheaply interrogated via low-cost hybridizatio...

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Detalles Bibliográficos
Autores principales: Foong, Justin, Girdea, Marta, Stavropoulos, James, Brudno, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593641/
https://www.ncbi.nlm.nih.gov/pubmed/26437450
http://dx.doi.org/10.1371/journal.pone.0139656