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

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, Elise, Münz, Márton, Clarke, Matthew, Renwick, Anthony, Ramsay, Emma, Elliott, Anna, Seal, Sheila, Lunter, Gerton, Rahman, Nazneen
Format: Online
Language:English
Published: Nature Publishing Group 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971567/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971567/

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