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COSMIC(癌症体细胞突变目录):一个用于研究人类癌症中获得性突变的资源。

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.

机构信息

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

出版信息

Nucleic Acids Res. 2010 Jan;38(Database issue):D652-7. doi: 10.1093/nar/gkp995. Epub 2009 Nov 11.

Abstract

The catalogue of Somatic Mutations in Cancer (COSMIC) (http://www.sanger.ac.uk/cosmic/) is the largest public resource for information on somatically acquired mutations in human cancer and is available freely without restrictions. Currently (v43, August 2009), COSMIC contains details of 1.5-million experiments performed through 13,423 genes in almost 370,000 tumours, describing over 90,000 individual mutations. Data are gathered from two sources, publications in the scientific literature, (v43 contains 7797 curated articles) and the full output of the genome-wide screens from the Cancer Genome Project (CGP) at the Sanger Institute, UK. Most of the world's literature on point mutations in human cancer has now been curated into COSMIC and while this is continually updated, a greater emphasis on curating fusion gene mutations is driving the expansion of this information; over 2700 fusion gene mutations are now described. Whole-genome sequencing screens are now identifying large numbers of genomic rearrangements in cancer and COSMIC is now displaying details of these analyses also. Examination of COSMIC's data is primarily web-driven, focused on providing mutation range and frequency statistics based upon a choice of gene and/or cancer phenotype. Graphical views provide easily interpretable summaries of large quantities of data, and export functions can provide precise details of user-selected data.

摘要

癌症体细胞突变目录(COSMIC)(http://www.sanger.ac.uk/cosmic/)是关于人类癌症体细胞获得性突变的最大公共信息资源,可免费无限制地获取。目前(v43,2009 年 8 月),COSMIC 包含了通过近 37 万个肿瘤中的 13423 个基因进行的 150 万次实验的详细信息,描述了超过 90000 个单独的突变。数据来自两个来源,科学文献中的出版物(v43 包含 7797 篇经过审核的文章)和英国桑格研究所癌症基因组计划(CGP)的全基因组筛选的全部输出。现在,人类癌症点突变的世界文献大部分已经被整理到 COSMIC 中,虽然这在不断更新,但对融合基因突变的审核更加重视,推动了这方面信息的扩展;现在描述了超过 2700 个融合基因突变。全基因组测序筛选现在正在确定癌症中大量的基因组重排,COSMIC 现在也在显示这些分析的细节。对 COSMIC 数据的检查主要是基于网络的,侧重于提供基于基因和/或癌症表型选择的突变范围和频率统计数据。图形视图提供了大量数据的易于解释的摘要,并且导出功能可以提供用户选择的数据的精确细节。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4e4/2808858/7004eb4fcf84/gkp995f1.jpg

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