COSMIC: the Catalogue Of Somatic Mutations In Cancer.
COSMIC: the Catalogue Of Somatic Mutations In Cancer.
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DOI：
10.1093/nar/gky1015
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发表时间：
2019-01-08
影响因子：
14.9
通讯作者：
Forbes SA
中科院分区：
文献类型：
--
作者：
Tate JG;Bamford S;Jubb HC;Sondka Z;Beare DM;Bindal N;Boutselakis H;Cole CG;Creatore C;Dawson E;Fish P;Harsha B;Hathaway C;Jupe SC;Kok CY;Noble K;Ponting L;Ramshaw CC;Rye CE;Speedy HE;Stefancsik R;Thompson SL;Wang S;Ward S;Campbell PJ;Forbes SA
COSMIC，癌症体细胞突变目录(https://cancer.sanger.ac.uk))是探索体细胞突变对人类癌症影响的最详细和最全面的资源。最新发布的宇宙v86(2018年8月)包括来自26 000多份出版物的140万个肿瘤样本的近600万个编码突变。除了编码突变，COSMIC还涵盖了体细胞突变促进癌症的所有遗传机制，包括非编码突变、基因融合、拷贝数变异和抗药性突变。COSMIC主要是手工策划的，确保质量、准确性和描述性数据捕获。在我们人工管理过程的基础上，我们正在引入新的倡议，使我们能够优先考虑关键基因和疾病，并对文献中的新发现做出更快、更全面的反应。除了对公共网站和数据下载系统的改进外，COSMIC-3D中的新功能还允许探索三维蛋白质结构中的突变，它们对蛋白质结构和功能的影响，以及对可药性的影响。在COSMIC深入而广泛的变异覆盖范围的同时，癌症基因普查(CGC)描述了一份精选的导致各种形式人类癌症的基因目录。CGC目前描述了719个基因，最近引入了每个基因如何驱动疾病的功能描述，总结为10个癌症标志。
COSMIC, the Catalogue Of Somatic Mutations In Cancer (https://cancer.sanger.ac.uk) is the most detailed and comprehensive resource for exploring the effect of somatic mutations in human cancer. The latest release, COSMIC v86 (August 2018), includes almost 6 million coding mutations across 1.4 million tumour samples, curated from over 26 000 publications. In addition to coding mutations, COSMIC covers all the genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations. COSMIC is primarily hand-curated, ensuring quality, accuracy and descriptive data capture. Building on our manual curation processes, we are introducing new initiatives that allow us to prioritize key genes and diseases, and to react more quickly and comprehensively to new findings in the literature. Alongside improvements to the public website and data-download systems, new functionality in COSMIC-3D allows exploration of mutations within three-dimensional protein structures, their protein structural and functional impacts, and implications for druggability. In parallel with COSMIC’s deep and broad variant coverage, the Cancer Gene Census (CGC) describes a curated catalogue of genes driving every form of human cancer. Currently describing 719 genes, the CGC has recently introduced functional descriptions of how each gene drives disease, summarized into the 10 cancer Hallmarks.
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影响因子：
8.4
作者：
Eisenhauer, E. A.;Therasse, P.;Verweij, J.
通讯作者：
Verweij, J.
影响因子：
6.8
作者：
Berman, Helen M.;Burley, Stephen K.;Kleywegt, Gerard J.;Markley, John L.;Nakamura, Haruki;Velankar, Sameer
通讯作者：
Velankar, Sameer
影响因子：
64.8
作者：
通讯作者：
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宇宙（癌症中的体细胞突变目录）数据库和网站。
影响因子：
8.8
作者：
Bamford, S;Dawson, E;Forbes, S;Clements, J;Pettett, R;Dogan, A;Flanagan, A;Teague, J;Futreal, PA;Stratton, MR;Wooster, R
通讯作者：
Wooster, R
DOI：
10.1038/nrc1299
发表时间：
2004-03
期刊：
Nature reviews. Cancer
影响因子：
--
作者：
通讯作者：
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