Mutational Signature Analysis for custom data

Due to the ubiquitous nature of many of the signatures found across different cancer types, researchers may be interested in interrogating the presence and prevalence in their collected tumor samples. However, the analysis of cancer genomic data requires advanced bioinformatics skills and remains limited to a small research community. Accordingly, mSignatureDB provides user-freindly web interfaces for two popular mutational signature analysis tools, the 1.deconstructSigs and 2. the WTSI Mutational Siganture Framework, to make such analyses more accessible to a wider community of researchers.

Furthermore, 3 different file formats (TCGA MAF, ICGC Tsv and VCF) and 2 reference genome builds (hg19 and hg38) are supported by our analysis server.

  1. deconstructSigs (known signatures determination)

    The deconstructSig method is suitable for analyzing the contribution of known COSMIC signatures in study cohorts with small number of samples, which has been proved to be able to consistently identify the same signatures of mutational processes active in a single tumor sample compared with the analysis of an entire sample set using the WTSI Mutational Signature Framework.

  2. WTSI Mutational Siganture Framework (de novo signatures analysis)

    The Wellcome Trust Sanger Institute (WTSI) Mutational Signature Framework is recommended for identifying novel mutational signatures when large samples are available. As suggested by previous study. The original WTSI Mutational Signature Framework is developed on MATLAB, which requires a commercial license and basic knowledge on MATLAB to perform the same analysis as Alexandrov et al. Accordingly, we incorperated the R-based implementation of the MATLAB WTSI framework and provided a web interface for this framework, which may be beneficial for mSignatureDB users.


  1. deconstructSigs

  2. mutSignatures: R-based implementation of the original MATLAB WTSI framework