Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores. We have developed VPOT (variant prioritization ordering tool), a python-based command line tool that allows researchers to create a single fully customizable pathogenicity ranking score from any number of annotation values, each with a user-defined weighting. The use of VPOT can be informative when analyzing entire cohorts, as variants in a cohort can be prioritized. VPOT also provides additional functions to allow variant filtering based on a candidate gene list or by affected status in a family pedigree. VPOT outperforms similar tools in terms of efficacy, flexibility, scalability, and computational performance. VPOT is freely available for public use at GitHub (https://github.com/VCCRI/VPOT/). Documentation for installation along with a user tutorial, a default parameter file, and test data are provided.

中文翻译：

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VPOT：一种用于带注释变体的可自定义变体优先级排序工具。

下一代测序（NGS）技术可为每个样品生成数千到数百万个遗传变异。潜在病因变异的鉴定是费力的，因为它依赖于使用各种注释度量进行过滤并考虑多个致病性预测分数。我们已经开发了VPOT（变异优先级排序工具），这是一个基于python的命令行工具，使研究人员可以从任意数量的注释值中创建一个完全可自定义的致病性排名分数，每个注释值均具有用户定义的权重。在分析整个队列时，VPOT的使用可以提供很多信息，因为可以优先考虑队列中的变体。VPOT还提供其他功能，以允许基于候选基因列表或家谱中的受影响状态进行变体过滤。VPOT在功效，灵活性，可伸缩性和计算性能方面优于同类工具。VPOT在GitHub（https://github.com/VCCRI/VPOT/）上免费供公众使用。提供了安装文档以及用户指南，默认参数文件和测试数据。