MuSiCa

MuSiCa analyzes somatic mutational profiles from cancer samples to extract and quantify mutational signatures for studying cancer mutagenesis and potential biomarkers.

Key Features:

• Versatile Input Formats: Supports various input formats for uploading and analyzing mutation data.
• Visualization Tools: Provides visualization options for examining somatic mutation profiles and mutation distribution across samples.
• Signature Analysis: Extracts and quantifies contributions from known mutational signatures as reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database.
• Sample Classification: Classifies samples based on signature contributions to enable comparison of cancer types or stages.

Scientific Applications:

• Mutational signature exploration: Enables characterization of mutational processes in the somatic genomics of cancer samples.
• Biomarker identification: Supports identification and quantification of COSMIC mutational signatures as candidate biomarkers in clinical research.
• Cancer mutagenesis and clinical implications: Facilitates studies into mutagenic mechanisms and their relevance to diagnosis and treatment.

Methodology:

Implemented in R using the Shiny framework and leveraging the MutationalPatterns package, with signature contributions referenced against the Catalogue of Somatic Mutations in Cancer (COSMIC).