The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
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DOI：
10.1093/nar/gkw1128
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发表时间：
2017-01-04
影响因子：
14.9
通讯作者：
Haendel MA
中科院分区：
文献类型：
--
作者：
Mungall CJ;McMurry JA;Köhler S;Balhoff JP;Borromeo C;Brush M;Carbon S;Conlin T;Dunn N;Engelstad M;Foster E;Gourdine JP;Jacobsen JO;Keith D;Laraway B;Lewis SE;NguyenXuan J;Shefchek K;Vasilevsky N;Yuan Z;Washington N;Hochheiser H;Groza T;Smedley D;Robinson PN;Haendel MA
表型结果与遗传变异和环境因素的相关性是生物学和生物医学的核心研究方向。许多挑战阻碍了我们的进展：患者的表型可能与已知疾病不匹配，候选变异可能存在于尚未表征的基因中，模式生物可能无法概括人类或兽医疾病，填补进化空白是困难的，必须查询许多资源以找到潜在的显著基因型-表型关联。非人类生物已被证明有助于揭示生物机制。先进的信息学工具可以在研究和诊断环境中识别与表型相关的疾病模型。模式生物和临床研究数据的大规模整合可以提供单个来源无法获得的广泛知识，并可以提供这些来源的数据背景化。君主计划（monarchinitiative.org）是一个协作的、开放的科学努力，旨在从语义上整合来自许多物种和来源的基因型-表型数据，以支持精准医学、疾病建模和机制探索。我们集成的知识图谱、分析工具和网络服务使不同的用户能够探索跨物种表型和基因型之间的关系。
The correlation of phenotypic outcomes with genetic variation and environmental factors is a core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient phenotypes may not match known diseases, candidate variants may be in genes that have not been characterized, model organisms may not recapitulate human or veterinary diseases, filling evolutionary gaps is difficult, and many resources must be queried to find potentially significant genotype–phenotype associations. Non-human organisms have proven instrumental in revealing biological mechanisms. Advanced informatics tools can identify phenotypically relevant disease models in research and diagnostic contexts. Large-scale integration of model organism and clinical research data can provide a breadth of knowledge not available from individual sources and can provide contextualization of data back to these sources. The Monarch Initiative (monarchinitiative.org) is a collaborative, open science effort that aims to semantically integrate genotype–phenotype data from many species and sources in order to support precision medicine, disease modeling, and mechanistic exploration. Our integrated knowledge graph, analytic tools, and web services enable diverse users to explore relationships between phenotypes and genotypes across species.
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DOI：
10.1093/database/bar066
发表时间：
2012-03-20
影响因子：
5.8
作者：
Hayamizu, Terry F.;de Coronado, Sherri;Ringwald, Martin
通讯作者：
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DOI：
10.1109/tvcg.2011.185
发表时间：
2011-12-01
影响因子：
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作者：
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影响因子：
14.9
作者：
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DOI：
10.1093/database/bav005
发表时间：
2015-01-01
期刊：
Database : the journal of biological databases and curation
影响因子：
--
作者：
Groza, Tudor;Kohler, Sebastian;Robinson, Peter N
通讯作者：
Robinson, Peter N