Ontology highlight
ABSTRACT:
SUBMITTER: Antonello A
PROVIDER: S-EPMC10832148 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Antonello Alice A Bergamin Riccardo R Calonaci Nicola N Househam Jacob J Milite Salvatore S Williams Marc J MJ Anselmi Fabio F d'Onofrio Alberto A Sundaram Vasavi V Sosinsky Alona A Cross William C H WCH Caravagna Giulio G
Genome biology 20240131 1
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 ...[more]