AI Article Synopsis
- Detection of somatic genetic variants is essential for precision oncology, guiding personalized treatment strategies.
- Molecular diagnostics labs need efficient and cost-effective methods to identify accurate genetic variants for clinical use, often facing challenges with existing tools like Ion Torrent.
- PipeIT2 is introduced as a new somatic variant calling workflow, designed for both matched tumor-germline and tumor-only studies, packaged in a Singularity container for improved reproducibility and ease of use.
Article Abstract
The detection of somatic genetic variants forms the cornerstone of precision oncology. Molecular diagnostics laboratories require economical and rapid protocols to generate accurate variant calls for clinical purposes. The Ion Torrent sequencing platform is frequently used but lacks robust analysis workflows tailored to the needs of custom sequencing panels. We present PipeIT2, a somatic variant calling workflow for both matched tumor-germline and tumor-only analyses. PipeIT2 is enclosed in a Singularity container to ensure reproducibility and ease of deployment.
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| http://dx.doi.org/10.1007/978-1-0716-2293-3_12 | DOI Listing |
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