SomaticSignatures: inferring mutational signatures from single-nucleotide variants

Area of Science:

• Genomics
• Bioinformatics

Background:

• Somatic single-nucleotide variants form mutational signatures reflecting underlying biological processes.
• Identifying these signatures is crucial for understanding cancer development.

Purpose of the Study:

• To introduce the SomaticSignatures R package.
• To provide flexible, interoperable, and easy-to-use tools for mutational signature analysis.

Main Methods:

• The SomaticSignatures R package is implemented within the Bioconductor project.
• The package facilitates large-scale, cross-dataset estimation of mutational signatures.
• It includes existing methods for pattern decomposition and supports user-defined approaches.

Main Results:

• The package offers tools for identifying mutational signatures in cancer sequencing data.
• It enables flexible and interoperable analysis across different datasets.
• Integration with existing Bioconductor workflows is supported.

Conclusions:

• SomaticSignatures provides a valuable resource for cancer genomics research.
• The package simplifies the identification and analysis of mutational signatures.
• It facilitates reproducible and scalable research in the field.