When ordering genetic testing or triaging candidate variants in exome and genome sequencing studies, it is critical to generate and test a comprehensive list of candidate genes that succinctly describe the complete and objective phenotypic features of disease. Significant efforts have been made to curate gene:disease associations both in academic research and commercial genetic testing laboratory settings. However, many of these valuable resources exist as islands and must be used independently, generating static, single-resource gene:disease association lists. Here we describe genepanel.iobio (https://genepanel.iobio.io) an easy to use, free and open-source web tool for generating disease- and phenotype-associated gene lists from multiple gene:disease association resources, including the NCBI Genetic Testing Registry (GTR), Phenolyzer, and the Human Phenotype Ontology (HPO). We demonstrate the utility of genepanel.iobio by applying it to complex, rare and undiagnosed disease cases that had reached a diagnostic conclusion. We find that genepanel.iobio is able to correctly prioritize the gene containing the diagnostic variant in roughly half of these challenging cases. Importantly, each component resource contributed diagnostic value, showing the benefits of this aggregate approach. We expect genepanel.iobio will improve the ease and diagnostic value of generating gene:disease association lists for genetic test ordering and whole genome or exome sequencing variant prioritization.

中文翻译：

---

Genepanel.iobio - 一个易于使用的网络工具，用于生成与疾病和表型相关的基因列表。

在外显子组和基因组测序研究中进行基因测试或对候选变异进行分类时，生成和测试能够简洁地描述疾病完整和客观表型特征的候选基因的综合列表至关重要。在学术研究和商业基因检测实验室环境中，已经做出了重大努力来管理基因：疾病关联。然而，许多这些有价值的资源以孤岛形式存在，必须独立使用，生成静态的、单一资源的基因：疾病关联列表。在这里，我们描述了genepanel.iobio (https://genepanel.iobio.io) 一个易于使用、免费和开源的网络工具，用于从多个基因：疾病关联资源（包括 NCBI）生成疾病和表型相关基因列表基因检测登记处 (GTR)、Phenolyzer、和人类表型本体（HPO）。我们通过将其应用于已得出诊断结论的复杂、罕见和未诊断的疾病病例来证明genepanel.iobio 的实用性。我们发现，genepanel.iobio 能够在大约一半的这些具有挑战性的案例中正确地优先考虑包含诊断变异的基因。重要的是，每个组件资源都贡献了诊断价值，显示了这种聚合方法的好处。我们预计genepanel.iobio 将提高生成基因的便利性和诊断价值：基因测试排序和全基因组或外显子组测序变异优先级的疾病关联列表。在这些具有挑战性的病例中，iobio 能够正确地对包含诊断变异的基因进行优先排序。重要的是，每个组件资源都贡献了诊断价值，显示了这种聚合方法的好处。我们预计genepanel.iobio 将提高生成基因的便利性和诊断价值：基因测试排序和全基因组或外显子组测序变异优先级的疾病关联列表。在这些具有挑战性的案例中，iobio 能够正确地对包含诊断变异的基因进行优先排序。重要的是，每个组件资源都贡献了诊断价值，显示了这种聚合方法的好处。我们预计genepanel.iobio 将提高生成基因的便利性和诊断价值：基因测试排序和全基因组或外显子组测序变异优先级的疾病关联列表。