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Journal article

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

Abstract:

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 large 1000 exome dataset (the ICR1000 UK exome series), and a clinical proband-parent trio dataset. The performance of OpEx for high-quality base substitutions and short indels in both small and large ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/srep31029

Authors


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Institute of Cancer Research More from this funder
National Institute for Health Research More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
Scientific Reports Journal website
Volume:
6
Issue:
1
Pages:
31029
Publication date:
2016-08-03
Acceptance date:
2016-07-12
DOI:
EISSN:
2045-2322
Pubs id:
pubs:638376
URN:
uri:f1851645-a14f-4287-93a9-fb798a3df2cb
UUID:
uuid:f1851645-a14f-4287-93a9-fb798a3df2cb
Local pid:
pubs:638376

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