With the advances of next-generation sequencing technology, the field of disease research has been revolutionized. However, pinpointing the disease-causing variants from millions of revealed variants is still a tough task. Here, we have reviewed the existing linkage analysis tools and presented PedMiner, a web-based application designed to narrow down candidate variants from family based whole-exome sequencing (WES) data through linkage analysis. PedMiner integrates linkage analysis, variant annotation and prioritization in one automated pipeline. It provides graphical visualization of the linked regions along with comprehensive annotation of variants and genes within these linked regions. This efficient and comprehensive application will be helpful for the scientific community working on Mendelian inherited disorders using family based WES data.

中文翻译：

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PedMiner：一种使用基于家族的全外显子组测序数据基于连锁分析识别疾病相关变异的工具。

随着二代测序技术的进步，疾病研究领域发生了翻天覆地的变化。然而，从数百万已揭示的变异中查明致病变异仍然是一项艰巨的任务。在这里，我们回顾了现有的连锁分析工具并介绍了 PedMiner，这是一个基于网络的应用程序，旨在通过连锁分析从基于家族的全外显子组测序 (WES) 数据中缩小候选变异。PedMiner 在一个自动化管道中集成了连锁分析、变异注释和优先级排序。它提供了链接区域的图形可视化以及这些链接区域内变体和基因的综合注释。这种高效而全面的应用程序将有助于科学界使用基于家族的 WES 数据研究孟德尔遗传性疾病。