OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis

We present an easy-to-use, open-source Optimised Exome analysis tool, OpEx (http://icr.ac.uk/opex) that accurately detects small-scale variation, including indels, to clinical standards. We evaluated OpEx performance with an experimentally validated dataset (the ICR142 NGS validation series), a larg...

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Detalles Bibliográficos
Autores principales: Ruark, Elise, Münz, Márton, Clarke, Matthew, Renwick, Anthony, Ramsay, Emma, Elliott, Anna, Seal, Sheila, Lunter, Gerton, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971567/
https://www.ncbi.nlm.nih.gov/pubmed/27485037
http://dx.doi.org/10.1038/srep31029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971567/
https://www.ncbi.nlm.nih.gov/pubmed/27485037
http://dx.doi.org/10.1038/srep31029

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