This article was accepted into the corpus but its outbound wikilinks were never NER-processed — typical at the deepest BFS hop or when the run's entity cap was reached. No expansion funnel to show.
| Catalogue Of Somatic Mutations In Cancer | |
|---|---|
| Name | Catalogue Of Somatic Mutations In Cancer |
| Owner | Wellcome Sanger Institute |
| Country | United Kingdom |
| Launched | 2004 |
Catalogue Of Somatic Mutations In Cancer
The Catalogue Of Somatic Mutations In Cancer (COSMIC) is a comprehensive database documenting somatic mutation information in human cancer. It aggregates curated mutation calls from primary literature, large-scale sequencing projects, and clinical sequencing initiatives to support translational research, precision oncology, and bioinformatics. COSMIC interfaces with multiple institutions and projects to integrate variant annotation, gene-centric summaries, and cancer-type distributions for use by researchers, clinicians, and policy bodies.
COSMIC collates variant-level data derived from publications and consortia such as the Wellcome Sanger Institute, the Cancer Genome Atlas, the International Cancer Genome Consortium, the European Bioinformatics Institute, and the National Cancer Institute. The resource emphasizes gene-centric mutation catalogs including entries linked to genes studied by teams at institutions like Harvard University, Cambridge University, Stanford University, Johns Hopkins University, and Massachusetts General Hospital. COSMIC’s data model supports allele descriptions, sample provenance, histology mapping using ontologies from groups such as World Health Organization and cross-references to resources like Ensembl, UniProt, ClinVar, and dbSNP.
COSMIC originated at the Wellcome Sanger Institute in the early 2000s and expanded alongside major initiatives including the Human Genome Project follow-ons and the formation of the Cancer Genome Atlas in collaboration with organizations such as the National Institutes of Health and the National Cancer Institute. Early contributors and curators included researchers affiliated with Cold Spring Harbor Laboratory, Imperial College London, Broad Institute, and European Molecular Biology Laboratory. Subsequent growth incorporated datasets from projects led by Peter Campbell, Michael Stratton, and teams linked to the 1000 Genomes Project and the Pan-Cancer Analysis of Whole Genomes.
COSMIC organizes somatic mutation records by gene, variant, tumor sample, histology, and site of origin, and it provides annotations consistent with standards from Human Genome Organisation nomenclature and mappings to transcript models maintained by Ensembl and RefSeq. The catalogue includes single nucleotide variants, insertions and deletions, copy number alterations, structural rearrangements, and gene fusions reported across cohorts from institutions such as Memorial Sloan Kettering Cancer Center, Dana-Farber Cancer Institute, Karolinska Institute, and Mayo Clinic. Datasets are harmonized to reference assemblies and linked to curated literature entries from publishers like Nature Publishing Group, Cell Press, Science (journal), and repositories such as PubMed.
COSMIC provides a web portal, downloadable datasets, and programmatic access to support workflows used by groups including European Bioinformatics Institute, Bioconductor, GitHub projects, and commercial partners like Illumina and Thermo Fisher Scientific. Analytical tools integrated with COSMIC data include browser-based mutation explorers, recurrence maps, and annotation pipelines that interoperate with platforms from Google Cloud Platform, Amazon Web Services, and bioinformatics suites developed at Broad Institute and Sanger Institute. Training and documentation leverage partnerships with European Molecular Biology Organization, Wellcome Trust, and academic courses at University of Oxford and University of Cambridge.
Researchers at institutions such as Stanford University, Yale University, University College London, and University of California, San Francisco use COSMIC to identify driver mutations, mutational signatures, and therapeutic targets investigated in trials run by organizations like National Comprehensive Cancer Network and European Society for Medical Oncology. Clinical laboratories apply COSMIC annotations alongside resources like ClinVar and OncoKB to inform variant interpretation, molecular tumor boards, and companion diagnostic development by companies including Roche, Pfizer, Novartis, and AstraZeneca.
Curation processes in COSMIC involve manual literature review, algorithmic filtering, and cross-validation with datasets from the Cancer Genome Atlas and the International Cancer Genome Consortium, employing standard operating procedures influenced by guidelines from American College of Medical Genetics and Genomics and quality frameworks used by European Medicines Agency. Contributors and curators hail from centers including Wellcome Sanger Institute, Broad Institute, Cold Spring Harbor Laboratory, and academic pathology departments at Johns Hopkins University and University of Pennsylvania.
Governance of COSMIC is overseen by stewardship at the Wellcome Sanger Institute with funding and collaborations involving organizations such as the Wellcome Trust, the European Commission, and the National Institutes of Health. Licensing models balance open-access principles promoted by Open Research advocates with controlled-access agreements for patient-derived clinical data consistent with policies from General Data Protection Regulation authorities and institutional review boards at centers like Kings College London and UCL Hospitals. Ethical oversight aligns with guidance from bodies including the World Health Organization and national research ethics committees.
Category:Bioinformatics databases