OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
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Date
2016-08-03ICR Author
Author
Ruark, E
Münz, M
Clarke, M
Renwick, A
Ramsay, E
Elliott, A
Seal, S
Lunter, G
Rahman, N
Type
Journal Article
Metadata
Show full item recordAbstract
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 datasets is excellent, with overall sensitivity of 95%, specificity of 97% and low false detection rate (FDR) of 3%. Depending on the individual performance requirements the OpEx output allows one to optimise the inevitable trade-offs between sensitivity and specificity. For example, in the clinical setting one could permit a higher FDR and lower specificity to maximise sensitivity. In contexts where experimental validation is not possible, minimising the FDR and improving specificity may be a preferable trade-off for slightly lower sensitivity. OpEx is simple to install and use; the whole pipeline is run from a single command. OpEx is therefore well suited to the increasing research and clinical laboratories undertaking exome sequencing, particularly those without in-house dedicated bioinformatics expertise.
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Research team
Genetic Susceptibility
Language
eng
Date accepted
2016-07-12
License start date
2016-08-03
Citation
Scientific reports, 2016, 6 pp. 31029 - ?
Publisher
NATURE PORTFOLIO