Mutational matrix
Mutational matrices for different variant classes (SBS, DBS, ID, or CN) can be generated from different mutation calling and segmentation files by using SigProfilerMatrixGenerator (Bergstrom et al. 2020 & Khandekar et al. 2023).
Mutation calling file
VCF - Variant call format: Default file format for variant calling and annotation.
TXT - Text format: plain text file codified in one of the following formats:
MAF - Mutation Annotation Format: File format widely used for multi-sample variant annotation in public available data.
Multiple file uploading is allowed in the case of VCF and TXT formats, each containing the somatic mutations of one sample at a time (CTRL/⌘ button during file selection).
For TXT and MAF formats, multi-sample file are allowed. Multi-sample VCF files are not supported.
Segmentation file
Multi-sample segmentation files obtained from several copy number calling tools can be used, including: ASCAT, ASCAT_NGS, SEQUENZA, ABSOLUTE, BATTENBERG, FACETS, and PURPLE. Please check the required format here.
Example data
Mutational matrix
VCF
TXT
MAF
Example data must be analyzed using the GRCh37/hg19 reference genome and the SBS variant class.
