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Beyond the Genome: A Tool to Track Mutations


At the Beyond the Genome conference this week, Wellcome Trust Sanger Institute researcher Nidhi Bindal presented a report on the institute's COSMIC tool — a Catalogue of Somatic Mutations in Cancer. COSMIC is a data-mining and discovery tool that focuses on cancer mutations that are sporadic or due to environmental factors. It curates somatic mutation data from trusted resources, combines the information into one database, and provides researchers with a varied range of analysis tools, Bindal said. The database contains information from the Wellcome Trust, The Cancer Genome Atlas, and other sources, and it regularly updates to include data on new and known genes from peer-reviewed journal articles. The information in COSMIC can be navigated by gene or by cancer and allows the user to target specific data points, Bindal said. The analysis tools also allow the user to review genes, see the frequency of specific mutations in different cancers, and see the frequency of nucleotide exchange. It gives the user the option to view the data in a genomic context by indicating mutation density in the genome, genomic rearrangements, and homozygous deletions, among other indications, Bindal added. COSMIC is intended to be a discovery tool to help researchers by giving them access to reliable and current information as well as sophisticated analysis tools. Used together, the features of the database give a clear picture of the characteristics of cancer and cancer-suppressing genes, she added.

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