COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
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DOI：
10.1093/nar/gku1075
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发表时间：
2015-01
影响因子：
14.9
通讯作者：
Campbell PJ
中科院分区：
文献类型：
--
作者：
Forbes SA;Beare D;Gunasekaran P;Leung K;Bindal N;Boutselakis H;Ding M;Bamford S;Cole C;Ward S;Kok CY;Jia M;De T;Teague JW;Stratton MR;McDermott U;Campbell PJ
COSMIC，癌症体细胞突变目录（http：cancer.sanger.ac.uk）是世界上最大和最全面的资源，用于探索人类癌症体细胞突变的影响。我们的最新版本（v70; 2014年8月）描述了超过100万个肿瘤样本和大多数人类基因中的2 002 811个编码点突变。为了强调对已知癌症基因的深入了解，突变信息是从科学文献中手动收集的，可以非常精确地定义疾病类型和患者细节。结合近20，000项已发表的研究，为人类癌症中突变和表型的相关性提供了实质性的解决方案，为癌症患者人群中突变和生物标志物的分层提供了见解。相反，我们对癌症基因组（超过12000个）的管理强调知识广度，推动发现未被识别的癌症驱动热点和分子靶点。我们的高分辨率策展方法是全球独一无二的，为人类肿瘤学中的分子生物标志物提供了实质性的见解。此外，COSMIC还详细描述了超过600万个非编码突变，10534个基因融合，61299个基因组重排，695504个异常拷贝数片段和60119787个异常表达变体。所有这些类型的体细胞突变都被注释到人类基因组和每个受影响的编码基因中，然后在疾病和突变类型之间进行关联。
COSMIC, the Catalogue Of Somatic Mutations In Cancer (http://cancer.sanger.ac.uk) is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. Our latest release (v70; Aug 2014) describes 2 002 811 coding point mutations in over one million tumor samples and across most human genes. To emphasize depth of knowledge on known cancer genes, mutation information is curated manually from the scientific literature, allowing very precise definitions of disease types and patient details. Combination of almost 20 000 published studies gives substantial resolution of how mutations and phenotypes relate in human cancer, providing insights into the stratification of mutations and biomarkers across cancer patient populations. Conversely, our curation of cancer genomes (over 12 000) emphasizes knowledge breadth, driving discovery of unrecognized cancer-driving hotspots and molecular targets. Our high-resolution curation approach is globally unique, giving substantial insight into molecular biomarkers in human oncology. In addition, COSMIC also details more than six million noncoding mutations, 10 534 gene fusions, 61 299 genome rearrangements, 695 504 abnormal copy number segments and 60 119 787 abnormal expression variants. All these types of somatic mutation are annotated to both the human genome and each affected coding gene, then correlated across disease and mutation types.
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影响因子：
14.9
作者：
Gonzalez-Perez A;Lopez-Bigas N
通讯作者：
Lopez-Bigas N
影响因子：
64.8
作者：
通讯作者：
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影响因子：
14.9
作者：
Flicek P;Amode MR;Barrell D;Beal K;Billis K;Brent S;Carvalho-Silva D;Clapham P;Coates G;Fitzgerald S;Gil L;Girón CG;Gordon L;Hourlier T;Hunt S;Johnson N;Juettemann T;Kähäri AK;Keenan S;Kulesha E;Martin FJ;Maurel T;McLaren WM;Murphy DN;Nag R;Overduin B;Pignatelli M;Pritchard B;Pritchard E;Riat HS;Ruffier M;Sheppard D;Taylor K;Thormann A;Trevanion SJ;Vullo A;Wilder SP;Wilson M;Zadissa A;Aken BL;Birney E;Cunningham F;Harrow J;Herrero J;Hubbard TJ;Kinsella R;Muffato M;Parker A;Spudich G;Yates A;Zerbino DR;Searle SM
通讯作者：
Searle SM
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：
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作者：
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