Cited by 2,278Cancer Genomics and DiagnosticsGenomics and Rare DiseasesGenomics and Phylogenetic Studies

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

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Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R. +6 more·2011·Nucleic Acids Research

Abstract

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.

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Authors
Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., Teague, J. W., Campbell, P. J., Stratton, M. R., & Futreal, P. A.
Affiliations
Wellcome Sanger Institute (GB)
Corresponding author
Futreal, P. A.
Venue
Nucleic Acids Research
Published
2010-10-15
Volume
39
Issue
Database
Pages
D945-D950
ISSN
  • 0305-1048 (ISSN-L)
  • 1362-4962
OpenAlex
W1989773675
Cited by
2,278
References
13
Citations by year
2026: 15 · 2025: 34 · 2024: 53 · 2023: 70 · 2022: 83 · 2021: 107 · 2020: 132 · 2019: 112 · 2018: 129 · 2017: 164 · 2016: 179 · 2015: 309 · 2014: 399 · 2013: 280 · 2012: 150
FWCI
49.11
Type
journal article
Language
en
Open access
Locations
  • Nucleic Acids Research (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
Wellcome Trust (077012/Z/05/Z, 088340, 093867)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
Keywords
COSMIC, somatic mutations, cancer genomics, cancer genes, fusion genes, TP53, TCGA, GRCh37, BioMart, genome annotation
MeSH terms
Humans, Mutation, Neoplasms, User-Computer Interface, Genome, Human, Databases, Nucleic Acid, Cell Line, Tumor, Data Mining

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