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癌症体细胞突变目录(COSMIC)。

The Catalogue of Somatic Mutations in Cancer (COSMIC).

作者信息

Forbes S A, Bhamra G, Bamford S, Dawson E, Kok C, Clements J, Menzies A, Teague J W, Futreal P A, Stratton M R

机构信息

Wellcome Trust Genome Campus, Hinxton, United Kingdom.

出版信息

Curr Protoc Hum Genet. 2008 Apr;Chapter 10:Unit 10.11. doi: 10.1002/0471142905.hg1011s57.

Abstract

COSMIC is currently the most comprehensive global resource for information on somatic mutations in human cancer, combining curation of the scientific literature with tumor resequencing data from the Cancer Genome Project at the Sanger Institute, U.K. Almost 4800 genes and 250000 tumors have been examined, resulting in over 50000 mutations available for investigation. This information can be accessed in a number of ways, the most convenient being the Web-based system which allows detailed data mining, presenting the results in easily interpretable formats. This unit describes the graphical system in detail, elaborating an example walkthrough and the many ways that the resulting information can be thoroughly investigated by combining data, respecializing the query, or viewing the results in different ways. Alternate protocols overview the available precompiled data files available for download.

摘要

COSMIC是目前关于人类癌症体细胞突变信息最全面的全球资源库,它将科学文献的整理与来自英国桑格研究所癌症基因组计划的肿瘤重测序数据相结合。已对近4800个基因和250000个肿瘤进行了检测,产生了超过50000个可供研究的突变。这些信息可以通过多种方式获取,最便捷的是基于网络的系统,该系统允许进行详细的数据挖掘,并以易于解释的格式呈现结果。本单元详细描述了图形系统,阐述了一个示例演练以及通过组合数据、重新指定查询或采用不同方式查看结果来深入研究所得信息的多种方法。替代方案概述了可供下载的可用预编译数据文件。

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