NO011.20190108.NAR.COSMIC: the Catalogue Of Somatic Mutations In Cancer

原文链接：COSMIC: the Catalogue Of Somatic Mutations In Cancer
文章来源：昨日文章COSMIC: exploring the world's knowledge of somatic mutations in human cancer的更新版。
备注：NAR系列文章之一

摘要概述

1. COSMIC v86（2018年8月版）统计：
   a. 编码突变（coding mutations）：6 million
   b. 肿瘤样本（tumour samples）：1.4 million
   c. 文献（publications）：26,000
2. 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.
3. COSMIC is primarily hand-curated, ensuring quality, accuracy and descriptive data capture.
4. 相较于之前的版本，除了网站和数据下载系统的更新（improvements）以外，还增加了一个新的功能：COSMIC-3D，该功能主要是用于探索变异在蛋白三维结构中的位置，以及变异蛋白本身的结构和对功能的影响，以及是否可以作为药物靶点（druggability）！

其他

1. Data within COSMIC are updated constantly and released on a regular, three-monthly cycle, guaranteeing four releases per year.
2. Data are presented in a powerful and comprehensive website (https: //cancer.sanger.ac.uk/cosmic), which collects and presents the wealth of data in tabular form or as interactive visualizations, such as the gene histogram;