Roche Diagnostics GmbH, Pharma Research Scientific Informatics, Nonnenwald 2, Penzberg, Germany.
Hum Mutat. 2010 Apr;31(4):407-13. doi: 10.1002/humu.21207.
Sequence variations are being studied for a better understanding of the mechanism and development of cancer as a mutation-driven disease. The systematic sequencing of genes in tumors and technological advances in high-throughput techniques combined with efficient data acquisition methods have resulted in an explosion of available cancer genome-related data. Despite the technological progress and increase of data, improvements in the application area, for example, drug target discovery, have failed to keep pace with increased research and development spending. One reason for this discrepancy is the ever increasing number of databases and the absence of a unified access to the mutation data. Currently, researchers typically have to browse several, often highly specialized databases to obtain the required information. A more complete understanding of relations and dependencies between mutations and cancer, however, requires the availability of an efficient integrative cancer genome information system. To facilitate this, we developed the Roche Cancer Genome Database (RCGDB), a freely available biological information system integrating different kinds of mutation data. The database is the first comprehensive integration of disparate cancer genome data like single nucleotide variants, single nucleotide polymorphisms, and chromosomal aberrations (CGH and FISH). RCGDB is freely accessible via a Google-like Web interface at http://rcgdb.bioinf.uni-sb.de/MutomeWeb/.
正在研究序列变异，以更好地了解癌症作为一种突变驱动疾病的机制和发展。肿瘤基因的系统测序和高通量技术的技术进步以及高效的数据采集方法相结合，导致了癌症基因组相关数据的爆炸式增长。尽管技术进步和数据增加，但应用领域的改进，例如药物靶点发现，未能跟上研究和开发支出的增加。造成这种差异的一个原因是数据库的数量不断增加，而突变数据缺乏统一的访问途径。目前，研究人员通常必须浏览几个，通常是高度专业化的数据库，以获取所需的信息。然而，要更全面地了解突变和癌症之间的关系和依赖关系，需要有一个高效的综合癌症基因组信息系统。为此，我们开发了罗氏癌症基因组数据库（RCGDB），这是一个免费提供的生物信息系统，整合了不同类型的突变数据。该数据库是第一个全面整合了不同癌症基因组数据的系统，如单核苷酸变异、单核苷酸多态性和染色体异常（CGH 和 FISH）。RCGDB 通过类似 Google 的 Web 界面免费访问，网址为 http://rcgdb.bioinf.uni-sb.de/MutomeWeb/。
