CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
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CADA：基于案例丰富的知识图的表型驱动的基因优先级排序
DOI：
10.1101/2021.03.01.21251705
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发表时间：
2021
影响因子：
4.6
通讯作者：
P. Krawitz
中科院分区：
文献类型：
--
作者：
Chengyao Peng;S. Dieck;Alexander Schmid;Ashar Ahmad;Alexej Knaus;M. Wenzel;Laura Mehnert;B. Zirn;T. Haack;S. Ossowski;M. Wagner;T. Brunet;Nadja Ehmke;Magdalena Danyel;Stanislav Rosnev;Tom Kamphans;Guy Nadav;N. Fleischer;H. Fröhlich;P. Krawitz
许多罕见的综合征可以很好地描述和描绘从其他疾病的特征性症状的组合。这些表型特征最好用人类表型本体（HPO）的术语来记录，HPO也越来越多地用于电子健康记录（EHR）。也已经开发了许多执行基于HPO的基因优先级排序的算法，然而，许多这样的工具的性能受到医学文献中非典型病例的过度呈现的影响。如果算法不能处理在无序中以降低的频率出现的特征，则肯定是这种情况。使用CADA，我们建立了一个基于病例注释和疾病注释的知识图谱，并表明CADA表现出上级性能，特别是对于表现出疾病的病理特征的患者。在我们的方法设计中至关重要的是使用诊断实验室存款在数据库（如ClinVar）中越来越多的表型信息。通过这种方式，CADA是罕见疾病鉴别诊断的理想参考工具，也可以定期更新。
Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms of the human phenotype ontology (HPO), which is increasingly used in electronic health records (EHRs), too. Many algorithms that perform HPO-based gene prioritization have also been developed, however, the performance of many such tools suffers from an overrepresentation of atypical cases in the medical literature. This is certainly the case if the algorithm cannot handle features that occur with reduced frequency in a disorder. With CADA we built a knowledge-graph that is based on case annotations and disorder annotations and show that CADA exhibits superior performance particularly for patients that present with the pathognomonic findings of a disease. Crucial in the design of our approach is the use of the growing amount of phenotypic information that diagnostic labs deposit in databases such as ClinVar. By this means CADA is an ideal reference tool for differential diagnostics in rare disorders that can also be updated regularly.
影响因子：
9.8
作者：
Singleton, Marc V.;Guthery, Stephen L.;Yandell, Mark
通讯作者：
Yandell, Mark