SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.

ABSTRACT: In recent studies, exome sequencing has proven to be a successful screening tool for the identification of candidate genes causing rare genetic diseases. Although underlying targeted sequencing methods are well established, necessary data handling and focused, structured analysis still remain demanding tasks. Here, we present 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 var

SUBMITTER: Fischer M 

PROVIDER: S-EPMC3411592 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature