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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Bibliographic Details
Main Authors: Ruark, E, Münz, M, Clarke, M, Renwick, A, Ramsay, E, Elliott, A, Seal, S, Lunter, G, Rahman, N
Format: Journal article
Language:English
Published: Nature Publishing Group 2016