Major John E
Memorial Sloan-Kettering Computational Biology Center, 1275 York Avenue, Box 460, New York, NY 10021, USA.
Bioinformatics. 2007 Nov 15;23(22):3091-2. doi: 10.1093/bioinformatics/btm339. Epub 2007 Jun 28.
The genomic mutation consequence calculator (GMCC) is a tool that will reliably and quickly calculate the consequence of arbitrary genomic mutations. GMCC also reports supporting annotations for the specified genomic region. The particular strength of the GMCC is it works in genomic space, not simply in spliced transcript space as some similar tools do. Within gene features, GMCC can report on the effects on splice site, UTR and coding regions in all isoforms affected by the mutation. A considerable number of genomic annotations are also reported, including: genomic conservation score, known SNPs, COSMIC mutations, disease associations and others. The manual interface also offers link outs to various external databases and resources. In batch mode, GMCC returns a csv file which can easily be parsed by the end user.
GMCC is intended to support the many tumor resequencing efforts, but can be useful to any study investigating genomic mutations.
基因组突变结果计算器（GMCC）是一种能够可靠且快速地计算任意基因组突变结果的工具。GMCC还会报告指定基因组区域的支持性注释。GMCC的独特优势在于它在基因组空间中运行，而不像一些类似工具那样仅在剪接转录本空间中运行。在基因特征范围内，GMCC可以报告突变对所有受影响异构体的剪接位点、非翻译区和编码区的影响。还会报告大量的基因组注释，包括：基因组保守性评分、已知单核苷酸多态性、COSMIC突变、疾病关联等。手动界面还提供指向各种外部数据库和资源的链接。在批处理模式下，GMCC会返回一个可被最终用户轻松解析的csv文件。
GMCC旨在支持众多肿瘤重测序工作，但对任何研究基因组突变的研究都可能有用。
