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Using RNA-Seq Data for the Detection of a Panel of Clinically Relevant Mutations.

Studies in health technology and informatics - 1 Jan 2018

Wolff Alexander, Perera-Bel Júlia, Schildhaus Hans-Ulrich, Homayounfar Kia, Schatlo Bawarjan, Bleckmann Annalen, Beißbarth Tim

Abstract excerpt

Somatic single nucleotide variants (SNVs) are genomic events with increasing implications in cancer treatment. The clinical standard for SNVs detection is whole genome/exome sequencing (WGS/WES) in matched tumor-normal samples. Yet, this is a very costly approach both economically and biologically and very often only tumor samples are sequenced. On the other hand, RNA sequencing (RNA-Seq) is the most popular...

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PMID: 30147077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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