Aßmus Jens, Schmitt Armin O, Bortfeldt Ralf H, Brockmann Gudrun A
Department of Crop and Animal Sciences, Humboldt-University of Berlin, Invalidenstraße 42, 10115 Berlin, Germany.
Adv Bioinformatics. 2011;2011:657341. doi: 10.1155/2011/657341. Epub 2011 Oct 31.
Typically, next-generation resequencing projects produce large lists of variants. NovelSNPer is a software tool that permits fast and efficient processing of such output lists. In a first step, NovelSNPer determines if a variant represents a known variant or a previously unknown variant. In a second step, each variant is classified into one of 15 SNP classes or 19 InDel classes. Beside the classes used by Ensembl, we introduce POTENTIAL_START_GAINED and START_LOST as new functional classes and present a classification scheme for InDels. NovelSNPer is based upon the gene structure information stored in Ensembl. It processes two million SNPs in six hours. The tool can be used online or downloaded.
通常，新一代重测序项目会产生大量的变异列表。NovelSNPer是一种软件工具，可对这类输出列表进行快速高效的处理。第一步，NovelSNPer确定一个变异是已知变异还是先前未知的变异。第二步，将每个变异分类到15个单核苷酸多态性（SNP）类别或19个插入缺失（InDel）类别中的一种。除了Ensembl使用的类别外，我们引入了“潜在起始获得”（POTENTIAL_START_GAINED）和“起始丢失”（START_LOST）作为新的功能类别，并提出了一种InDel分类方案。NovelSNPer基于Ensembl中存储的基因结构信息。它能在6小时内处理200万个SNP。该工具既可以在线使用，也可以下载。
