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PipeIT2: A tumor-only somatic variant calling workflow for molecular diagnostic Ion Torrent sequencing data.

Genomics - 1 Mar 2023

Schnidrig Desiree, Garofoli Andrea, Benjak Andrej, Rätsch Gunnar, Rubin Mark A, Piscuoglio Salvatore, Ng Charlotte K Y

Abstract excerpt

Precision oncology relies on the accurate identification of somatic mutations in cancer patients. While the sequencing of the tumoral tissue is frequently part of routine clinical care, the healthy counterparts are rarely sequenced. We previously published PipeIT, a somatic variant calling workflow specific for Ion Torrent sequencing data enclosed in a Singularity container. PipeIT combines user-friendly...

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PMID: 36796655
DOI: 10.1016/j.ygeno.2023.110587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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