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mSignatureDB: a database for deciphering mutational signatures in human cancers

机译:mSignatureDB:用于解密人类癌症中突变特征的数据库

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摘要

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 () 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.
机译:癌症是由体细胞突变引起的遗传疾病。然而,对引起这些突变的病因生物学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作用。破译癌症中的突变特征是癌症研究中的新课题。惠康信托桑格研究所(WTSI)根据对TCGA和ICGC的约10,000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。需要大批研究人员和生物信息学技能来进行与WTSI相同的分析。在COSMIC数据库的当前框架下,无法对自定义队列中的已知特征进行量化,这促使我们构建癌症突变特征的数据库,并使普通研究人员更容易进行此类分析。 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15 780种个体肿瘤中已发布签名的贡献,从而使比较项目内部和项目之间的签名模式成为可能。 mSignatureDB还允许用户对自己的数据集执行签名分析,以样本分辨率量化签名的贡献,这是mSignatureDB的独特功能,其他相关数据库中没有。

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