Current Protocols in Human Genetics · 2008 · 918 citations · 9 references
MedicineGeneticsOncologyCancer GeneticsGenomicsMolecular OncologyCancer Genome SequencingCancer GenomicsMutation AnalysisNext-generation Sequencing In OncologySomatic Variant InterpretationVariant DetectionCancer Mutation AnalysisScientific Literature MiningSomatic Mutation AnalysisSomatic MutationsSomatic Variant AnalysisSomatic Variant ClassificationTumor Mutation Analysis
COSMIC is currently the most comprehensive global resource for information on somatic mutations in human cancer, combining curation of the scientific literature with tumor resequencing data from the Cancer Genome Project at the Sanger Institute, U.K. Almost 4800 genes and 250000 tumors have been examined, resulting in over 50000 mutations available for investigation. This information can be accessed in a number of ways, the most convenient being the Web-based system which allows detailed data mining, presenting the results in easily interpretable formats. This unit describes the graphical system in detail, elaborating an example walkthrough and the many ways that the resulting information can be thoroughly investigated by combining data, respecializing the query, or viewing the results in different ways. Alternate protocols overview the available precompiled data files available for download.
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