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...
Main Authors: | , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
Nature Publishing Group
2016
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