VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

PURPOSE: To develop and validate VisCap, a software program targeted to clinical laboratories for inference and visualization of germ-line copy-number variants (CNVs) from targeted next-generation sequencing data. Genet Med 18 7, 712–719. METHODS: VisCap calculates the fraction of overall sequence c...

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Detalles Bibliográficos
Autores principales: Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940431/
https://www.ncbi.nlm.nih.gov/pubmed/26681316
http://dx.doi.org/10.1038/gim.2015.156

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