SIMPLEX is a cloud-enabled autonomous analysis pipeline, which comprises the complete exome analysis workflow. The pipeline combines several in-house developed and published applications to perform the following steps: (a) initial quality control, (b) intelligent data filtering and pre-processing, (c) sequence alignment to a reference genome, (d) SNP and DIP detection, (e) functional annotation of variants using different approaches, and (f) detailed report generation during various stages of the workflow.
the Division of Bioinformatics, Innsbruck Medical University
- Windows/Linux /MacOsX
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SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.
Fischer M, Snajder R, Pabinger S, Dander A, Schossig A, Zschocke J, Trajanoski Z, Stocker G.
PLoS One. 2012;7(8):e41948. doi: 10.1371/journal.pone.0041948.