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

Antonello, Alice
•
Bergamin, Riccardo
•
Calonaci, Nicola
altro
Caravagna, Giulio
2024
  • journal article

Periodico
GENOME BIOLOGY
Abstract
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 single-cell data and simulations, is applied to over 4000 TCGA and PCAWG samples, and is incorporated into the validation process for the clinically accredited bioinformatics pipeline at Genomics England. CNAqc is designed to support automated quality control procedures for tumor somatic data validation.
DOI
10.1186/s13059-024-03170-5
WOS
WOS:001154326600002
Archivio
https://hdl.handle.net/20.500.11767/142191
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85183712759
https://ricerca.unityfvg.it/handle/20.500.11767/142191
Diritti
open access
google-scholar
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