COSMIC: exploring the world’s knowledge of somatic mutations in human cancer

COSMIC: exploring the world’s knowledge of somatic mutations in human cancer

2015, Vol. 43, Database issue | Simon A. Forbes*, David Beare, Prasad Gunasekaran, Kenric Leung, Nidhi Bindal, Harry Boutselakis, Minjie Ding, Sally Bamford, Charlotte Cole, Sari Ward, Chai Yin Kok, Mingming Jia, Tisham De, Jon W. Teague, Michael R. Stratton, Ultan McDermott and Peter J. Campbell
COSMIC (Catalogue Of Somatic Mutations In Cancer) is the world's largest and most comprehensive resource for exploring somatic mutations in human cancer. The latest release (v70, August 2014) includes over 2 million coding point mutations in more than one million tumor samples, covering most human genes. COSMIC curates mutation information manually from the scientific literature to provide precise definitions of disease types and patient details, emphasizing depth of knowledge on known cancer genes. Additionally, it curates over 12,000 cancer genomes to drive the discovery of new cancer-driving hotspots and molecular targets. The database also details noncoding mutations, gene fusions, genome rearrangements, abnormal copy number segments, and abnormal expression variants. These mutations are annotated to both the human genome and affected coding genes, and their relationships are correlated across disease and mutation types. COSMIC's high-resolution curation approach provides substantial insights into molecular biomarkers in human oncology. The database is accessible through a custom website, BioMart, and various downloadable formats, including CSV, VCF, and Oracle database dumps. Future work will focus on expanding manual curation, integrating new data types, and enhancing data quality and utility.COSMIC (Catalogue Of Somatic Mutations In Cancer) is the world's largest and most comprehensive resource for exploring somatic mutations in human cancer. The latest release (v70, August 2014) includes over 2 million coding point mutations in more than one million tumor samples, covering most human genes. COSMIC curates mutation information manually from the scientific literature to provide precise definitions of disease types and patient details, emphasizing depth of knowledge on known cancer genes. Additionally, it curates over 12,000 cancer genomes to drive the discovery of new cancer-driving hotspots and molecular targets. The database also details noncoding mutations, gene fusions, genome rearrangements, abnormal copy number segments, and abnormal expression variants. These mutations are annotated to both the human genome and affected coding genes, and their relationships are correlated across disease and mutation types. COSMIC's high-resolution curation approach provides substantial insights into molecular biomarkers in human oncology. The database is accessible through a custom website, BioMart, and various downloadable formats, including CSV, VCF, and Oracle database dumps. Future work will focus on expanding manual curation, integrating new data types, and enhancing data quality and utility.
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