COSMIC

COSMIC curates and catalogs somatic mutations in human cancer to enable research into the genetic basis of oncogenesis.

Key Features:

• Somatic mutation curation: Contains data from over 19,000 genes, including 161,787 coding mutations and 5,573 gene fusions across more than 577,000 tumor samples (release v51, January 2011).
• Data integration: Integrates mutation data from scientific publications, the Cancer Genome Project (CGP) at the Sanger Institute, and The Cancer Genome Atlas (TCGA).
• Fusion gene curation: Explicit curation and substantial expansion of fusion gene mutation annotations.
• Mutation statistics: Provides detailed mutation range and frequency statistics stratified by gene and cancer phenotype.
• COSMICMart (COSMIC BioMart): Enables mining and integration of somatic mutation data with other biological datasets.
• Genomic annotation and references: Annotates genomic features including full-genome resequencing experiments and maintains links to Ensembl and reference genome builds (e.g., GRCh37).
• Regular updates: Database content is regularly updated to incorporate new mutation discoveries.

Scientific Applications:

• Cancer genomics: Investigation of the genetic underpinnings of oncogenesis through curated somatic mutation data.
• Mutation distribution analysis: Analysis of mutation frequency, range, and distribution across genes and cancer phenotypes.
• Fusion gene research: Discovery and characterization of gene fusions implicated in cancer.
• Integrative analyses: Combining somatic mutation data with external biological datasets for comprehensive oncology studies via COSMICMart.
• Genome-referenced annotation: Use of Ensembl links and reference genome builds (e.g., GRCh37) for genome-based analyses and interpretation.

Methodology:

Curates and annotates somatic mutations from scientific publications and genome-wide screens (Cancer Genome Project, TCGA), processes full-genome resequencing experiment data, integrates data with Ensembl and reference genome builds (e.g., GRCh37), and exposes data for mining via COSMICMart (BioMart).