CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing

Next Generation Sequencing is now routinely used in the practice of diagnostic pathology to detect clinically relevant somatic and germline sequence variations in patient samples. However, clinical assessment of copy number variations (CNVs) and large-scale structural variations (SVs) is still chall...

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Detalles Bibliográficos
Autores principales: Markham, John F., Yerneni, Satwica, Ryland, Georgina L., Leong, Huei San, Fellowes, Andrew, Thompson, Ella R., De Silva, Wasanthi, Kumar, Amit, Lupat, Richard, Li, Jason, Ellul, Jason, Fox, Stephen, Dickinson, Michael, Papenfuss, Anthony T., Blombery, Piers
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478945/
https://www.ncbi.nlm.nih.gov/pubmed/31015508
http://dx.doi.org/10.1038/s41598-019-42858-8

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