Article

Evaluation of somatic variant calling methods on high coverage tumour-only amplicon sequencing data in a clinical environment

2026-04-11

Abstract excerpt

One of the current workhorses of next-generation sequencing in clinical molecular diagnostics laboratories for profiling somatic mutations in tumours are amplicon-based targeted sequencing panels. Many open-source somatic variant callers are available; however, their use in clinical applications remains under explored. Therefore, we integrated outputs of six variant callers (FreeBayes, MuTect2, Pisces, Platypus, V...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b0953216-2878-51bc-ab7e-3017bdd566db
DOI: 10.64898/2026.04.08.717310

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluation of somatic variant calling methods on high coverage tumour-only amplicon sequencing data in a clinical environmentDOI 10.64898/2026.04.08.717310Read

Assessing and Optimizing Low-Frequency Somatic Mutation Detection: A Multi-Platform High-Throughput Sequencing PerspectiveSemantic proximity Read

Comparative Evaluation of Mutect2, Strelka2, and FreeBayes for Somatic SNV Detection in Synthetic and Clinical Whole-Exome Sequencing Data.Semantic proximity Read

Accuracy and Reproducibility of Somatic Point Mutation Calling in Clinical-Type Targeted Sequencing DataSemantic proximity Read

Comparison of somatic mutation calling methods in amplicon and whole exome sequence data.Semantic proximity Read

TNscope: Accurate Detection of Somatic Mutations with Haplotype-based Variant Candidate Detection and Machine Learning FilteringSemantic proximity Read

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data.Semantic proximity Read

Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data.Semantic proximity Read

Machine learning-based somatic variant calling in cell-free DNA of metastatic breast cancer patients using large NGS panelsSemantic proximity Read

Accurate somatic variant calling performance using Avidity Sequencing with Burning Rock’s OncoScreen <sup>TM</sup> Plus panelSemantic proximity Read

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.Semantic proximity Read

A cancer cell-line titration series for evaluating somatic classification.Semantic proximity Read

In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data.Semantic proximity Read