Computational validation of clonal and subclonal copy number alterations from bulk tumour sequencing

Somatic variant identification from WGS data is a crucial step in the analysis of cancer genomes. Several tools are available to perform mutations calling, however, the noisiness of data requires appropriate quality control assessment. In the preprint work available at https://doi.org/10.1101/2021.02.13.429885 we present CNAqc, an R package devised to assess the quality of allele-specific Copy Number Alterations (CNA), somatic mutations, and tumor purity estimates. In order to test the model, we ran CNAqc on 2778 single-sample PCAWG whole-genomes and 48 TCGA whole-exomes. We uploaded the results of our analysis using the release of the tool available at https://github.com/caravagnalab/CNAqc/releases/tag/rr_22_0.1 in the form of .rds files. All the necessary details for the reproduction of our results are reported in the Supplementary Materials of the above-mentioned manuscript.