PureCN: copy number calling and SNV classification using targeted short read sequencing

BACKGROUND: Matched sequencing of both tumor and normal tissue is routinely used to classify variants of uncertain significance (VUS) into somatic vs. germline. However, assays used in molecular diagnostics focus on known somatic alterations in cancer genes and often only sequence tumors. Therefore,...

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Detalles Bibliográficos
Autores principales: Riester, Markus, Singh, Angad P., Brannon, A. Rose, Yu, Kun, Campbell, Catarina D., Chiang, Derek Y., Morrissey, Michael P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157099/
https://www.ncbi.nlm.nih.gov/pubmed/27999612
http://dx.doi.org/10.1186/s13029-016-0060-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157099/
https://www.ncbi.nlm.nih.gov/pubmed/27999612
http://dx.doi.org/10.1186/s13029-016-0060-z

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