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

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer.
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DOI:
10.1093/nar/gkq929
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发表时间:
2011-01
影响因子:
14.9
通讯作者:
Futreal PA
Futreal PA
中科院分区:
生物学2区
文献类型:
--
作者:
Forbes SA;Bindal N;Bamford S;Cole C;Kok CY;Beare D;Jia M;Shepherd R;Leung K;Menzies A;Teague JW;Campbell PJ;Stratton MR;Futreal PA

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COSMIC(http://www.sanger.ac.uk/cosmic)收集了关于人类癌症体细胞突变的全面信息。Release v48(2010年7月)描述了近542 000个肿瘤样本中超过136 000个编码突变;在记录的18 490个基因中,4803个(26%)有一个或多个突变。完整的科学文献库可用于83个主要癌症基因和49个融合基因对(今年有19个新的癌症基因和30个新的融合基因对),而且这个数字还在不断增加。其中的关键是TP 53,现在可以通过与IARC p53数据库的合作获得。除了来自英国桑格研究所的癌症基因组计划(CGP)和癌症基因组图谱计划(TCGA)的数据外,现在还策划了大型系统屏幕。主要的网站升级现在使这些数据更容易挖掘,有许多新的选择过滤器和图形。现在可以使用Biomart,允许更自动化的数据挖掘和与其他生物数据库的集成。基因组特征的注释已成为一个重要的焦点; COSMIC已开始策划全基因组重测序实验,开发新的网页,导出格式和图形样式。随着所有基因组信息最近更新到GRCh 37,COSMIC整合了许多不同类型的突变信息,并与Ensembl和其他数据资源建立了更紧密的联系。
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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