mSignatureDB: a database for deciphering mutational signatures in human cancers.

mSignatureDB: a database for deciphering mutational signatures in human cancers.
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DOI:
10.1093/nar/gkx1133
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发表时间:
2018-01-04
影响因子:
14.9
通讯作者:
Tang P
Tang P
中科院分区:
生物学2区
文献类型:
--
作者:
Huang PJ;Chiu LY;Lee CC;Yeh YM;Huang KY;Chiu CH;Tang P

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癌症是由体细胞突变引起的遗传疾病;然而,对产生这些突变的致病生物过程的理解是有限的。癌症基因组在肿瘤发展过程中具有突变过程的累积效应。解读癌症中的突变特征是癌症研究中的一个新课题。Wellcome Trust桑格研究所(WTSI)基于对来自TCGA和ICGC的10000个测序数据集的分析,对COSMIC数据库中的30个参考签名进行了分类。需要大的队列和生物信息学技能来执行与WTSI相同的分析。在COSMIC数据库的当前框架下,自定义队列中已知特征的量化是不可能的,这促使我们构建癌症突变特征的数据库,并使此类分析更容易为一般研究人员所用。mSignatureDB(http://tartis.cgu.edu.tw/msignaturedb)集成了R包和内部脚本,以确定来自73个TCGA/ICGC癌症项目的15780个个体肿瘤中已发表的签名的贡献,使项目内和项目之间的签名模式比较成为可能。mSignatureDB还允许用户对自己的数据集进行签名分析,以样本分辨率量化签名的贡献,这是mSignatureDB在其他相关数据库中不可用的独特功能。
Cancer is a genetic disease caused by somatic mutations; however, the understanding of the causative biological processes generating these mutations is limited. A cancer genome bears the cumulative effects of mutational processes during tumor development. Deciphering mutational signatures in cancer is a new topic in cancer research. The Wellcome Trust Sanger Institute (WTSI) has categorized 30 reference signatures in the COSMIC database based on the analyses of ∼10 000 sequencing datasets from TCGA and ICGC. Large cohorts and bioinformatics skills are required to perform the same analysis as WTSI. The quantification of known signatures in custom cohorts is not possible under the current framework of the COSMIC database, which motivates us to construct a database for mutational signatures in cancers and make such analyses more accessible to general researchers. mSignatureDB (http://tardis.cgu.edu.tw/msignaturedb) integrates R packages and in-house scripts to determine the contributions of the published signatures in 15 780 individual tumors from 73 TCGA/ICGC cancer projects, making comparison of signature patterns within and between projects become possible. mSignatureDB also allows users to perform signature analysis on their own datasets, quantifying contributions of signatures at sample resolution, which is a unique feature of mSignatureDB not available in other related databases.
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