COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

作者：Simon Andrew Forbes, Nidhi Bindal, Sally Bamford, C. Cole, Chai Yin Kok, David M. Beare, Mingming Jia, Rebecca F. Shepherd, Kenneth Siu-Sing Leung, Andrew H. Menzies, Jon W Teague, Peter J. Campbell, Michael R. Stratton, P. Andrew Futreal · 发表于：Nucleic Acids Research · 年份：2010 · DOI：10.1093/nar/gkq929 · 被引用次数：2360 · 研究领域：Cancer Genomics and Diagnostics、Genomics and Phylogenetic Studies、Molecular Biology Techniques and Applications

COSMIC (http://www.sanger.ac.uk/cosmic) curates comprehensive information on somatic mutations in human cancer. Release v48 (July 2010) describes over 136,000 coding mutations in almost 542,000 tumour samples; of the 18,490 genes documented, 4803 (26%) have one or more mutations. Full scientific literature curations are available on 83 major cancer genes and 49 fusion gene pairs (19 new cancer genes and 30 new fusion pairs this year) and this number is continually increasing. Key amongst these is TP53, now available through a collaboration with the IARC p53 database. In addition to data from the Cancer Genome Project (CGP) at the Sanger Institute, UK, and The Cancer Genome Atlas project (TCGA), large systematic screens are also now curated. Major website upgrades now make these data much more mineable, with many new selection filters and graphics. A Biomart is now available allowing more automated data mining and integration with other biological databases. Annotation of genomic features has become a significant focus; COSMIC has begun curating full-genome resequencing experiments, developing new web pages, export formats and graphics styles. With all genomic information recently updated to GRCh37, COSMIC integrates many diverse types of mutation information and is making much closer links with Ensembl and other data resources.