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SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data
2012
PLoS ONE
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
doi:10.1371/journal.pone.0041948
pmid:22870267
pmcid:PMC3411592
fatcat:3kr7xvxdx5gcvkz3rjueqm5zmq