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Article

Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqc.

Genome biology - 31 Jan 2024

Antonello Alice, Bergamin Riccardo, Calonaci Nicola, Househam Jacob, Milite Salvatore, Williams Marc J, Anselmi Fabio, d'Onofrio Alberto, Sundaram Vasavi, Sosinsky Alona, Cross William C H, Caravagna Giulio

Abstract excerpt

Copy number alterations (CNAs) are among the most important genetic events in cancer, but their detection from sequencing data is challenging because of unknown sample purity, tumor ploidy, and general intra-tumor heterogeneity. Here, we present CNAqc, an evolution-inspired method to perform the computational validation of clonal and subclonal CNAs detected from bulk DNA sequencing. CNAqc is validated using...

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Identifiers

PMID: 38297376
DOI: 10.1186/s13059-024-03170-5
PMCID: PMC10832148

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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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