FAIRsharing record for: Monarch Initiative

This FAIRsharing record describes: The Monarch Initiative is an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. The correlation of phenotypic outcomes and disease with genetic variation and environmental factors is a core pursuit in biology and biomedicine. We have created or currently contribute to many essential bio-ontologies that together enable sophisticated and semantically integrated computational analysis across gene, genotype, variant, disease, and phenotype data. We have developed algorithms and tools that are in use by multiple communities for tasks including the identification of animal models of human disease through phenotypic similarity, phenotype-driven computational support for differential diagnostics, and translational research.

这个FAIRsharing记录描述了：Monarch Initiative是一个跨物种连接表型（phenotypes）与基因型（genotypes）的综合数据及分析平台，通过基于语义的分析（semantics-based analysis）架起基础研究与应用研究之间的桥梁。表型结果与疾病同遗传变异及环境因素的相关性研究是生物学与生物医学领域的核心目标。我们已创建或正在参与构建多项关键生物本体论（bio-ontologies），这些本体论共同支持对基因、基因型、变异、疾病及表型数据进行复杂且语义整合的计算分析。我们开发的算法与工具已被多个社区采用，用于完成多种任务，包括通过表型相似性识别人类疾病的动物模型、为鉴别诊断提供表型驱动的计算支持，以及转化研究。