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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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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4971567/ https://ncbi.nlm.nih.gov/pubmed/27485037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep31029 |
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