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  3. PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data.
 

PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data.

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BORIS DOI
10.48350/170930
Publisher DOI
10.1007/978-1-0716-2293-3_12
PubMed ID
35751816
Description
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.
Date of Publication
2022
Publication Type
Article
Subject(s)
600 Technology > 610 Medicine & health
Keyword(s)
Ion Torrent Singularity Somatic mutations Tumor-only variant calling Variant calling
Language(s)
en
Contributor(s)
Garofoli, Andrea
Schnidrig, Désirée
Department for BioMedical Research (DBMR)
Ng, Kiu Yan Charlotte
Department for BioMedical Research (DBMR)
Additional Credits
Department for BioMedical Research (DBMR)
Series
Methods in molecular biology
Publisher
Springer
ISSN
1940-6029
Access(Rights)
restricted
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