The availability of genetic variants, together with phenotypic annotations from model organisms, facilitates comparing these variants with equivalent variants in humans. However, existing databases and search tools do not make it easy to scan for equivalent variants, namely “matching variants” (MatchVars) between humans and other organisms. Therefore, we developed an integrated search engine called ConVarT (http://www.convart.org/) for matching variants between humans, mice, and C. elegans. ConVarT incorporates annotations (including phenotypic and pathogenic) into variants, and these previously unexploited phenotypic MatchVars from mice and C. elegans can give clues about the functional consequence of human genetic variants. Our analysis shows that many phenotypic variants in different genes from mice and C. elegans, so far, have no counterparts in humans, and thus, can be useful resources when evaluating a relationship between a new human mutation and a disease.

中文翻译：

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ConVarT：用于匹配人类遗传变异与非人类物种变异的搜索引擎

遗传变异的可用性以及来自模型生物的表型注释有助于将这些变异与人类的等效变异进行比较。然而，现有的数据库和搜索工具并不能轻松扫描等效变体，即人类与其他生物体之间的“匹配变体”（MatchVars）。因此，我们开发了一个名为 ConVarT (http://www.convart.org/) 的集成搜索引擎，用于匹配人类、小鼠和秀丽隐杆线虫之间的变异。ConVarT 将注释（包括表型和致病性）合并到变体中，这些以前未利用的来自小鼠和秀丽隐杆线虫的表型 MatchVars可以提供有关人类遗传变异的功能后果的线索。我们的分析表明，迄今为止，来自小鼠和秀丽隐杆线虫的不同基因中的许多表型变异在人类中没有对应物，因此，在评估新的人类突变与疾病之间的关系时，它们可以成为有用的资源。