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Detecting copy number variation in next generation sequencing data from diagnostic gene panels

BACKGROUND: Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection based on NGS data is in general not often used in diagno...

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Detalles Bibliográficos
Autores principales:	Singh, Ashish Kumar, Olsen, Maren Fridtjofsen, Lavik, Liss Anne Solberg, Vold, Trine, Drabløs, Finn, Sjursen, Wenche
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406611/ https://www.ncbi.nlm.nih.gov/pubmed/34465341 http://dx.doi.org/10.1186/s12920-021-01059-x

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