PipeIT: Singularity Container for Molecular Diagnostic Somatic Variant Calling on Ion Torrent NGS Platform

The accurate identification of somatic mutations has become a pivotal component of tumor profiling and precision medicine. In molecular diagnostics laboratories, somatic mutation analyses on the Ion Torrent sequencing platform are typically performed on the Ion Reporter platform, which requires extensive manual review of the results and lacks optimized analysis workflows for custom targeted sequencing panels. Alternative solutions involving custom bioinformatics pipelines involve the sequential execution of software tools with numerous parameters, leading to poor reproducibility and portability.

Source: Journal of Molecular Diagnostics - June 19, 2019 Category: Pathology Authors: Andrea Garofoli, Viola Paradiso, Hesam Montazeri, Philip M. Jermann, Guglielmo Roma, Luigi Tornillo, Luigi M. Terracciano, Salvatore Piscuoglio, Charlotte K.Y. Ng Tags: Regular Article Source Type: research