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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Bibliografske podrobnosti
izdano v:Sci Rep
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2019
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6478945/
https://ncbi.nlm.nih.gov/pubmed/31015508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-42858-8
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