COSMIC Cancer Mutation Database

概要

The COSMIC Database skill enables researchers and developers to programmatically access the Catalogue of Somatic Mutations in Cancer, the most comprehensive source for cancer genomics. It provides specialized tools for downloading mutation data, the Cancer Gene Census, mutational signatures, and drug resistance information across various genome assemblies (GRCh38 and GRCh37). This skill simplifies the integration of high-quality cancer mutation data into bioinformatics pipelines, allowing for efficient querying of gene fusions, structural variants, and copy number alterations essential for precision medicine and oncology studies.

主な機能

• Downloadable mutational signature profiles (SBS, DBS, ID) for signature analysis.
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• Automated retrieval of drug resistance mutations with clinical annotations.
• Compatibility with both GRCh38 and GRCh37 human genome assemblies.
• Programmatic access to the Cancer Gene Census for curated cancer-related gene lists.
• Support for multiple data formats including TSV, CSV, and VCF files.

ユースケース

• Identifying known cancer genes and their roles as oncogenes or tumor suppressors.
• Integrating COSMIC mutation data into custom bioinformatics and variant annotation pipelines.
• Analyzing mutational signatures to understand underlying mutagenic processes in tumors.