The Human Phenotype Ontology in 2017.
The Human Phenotype Ontology in 2017.
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DOI：
10.1093/nar/gkw1039
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发表时间：
2017-01-04
影响因子：
14.9
通讯作者：
Robinson PN
中科院分区：
文献类型：
--
作者：
Köhler S;Vasilevsky NA;Engelstad M;Foster E;McMurry J;Aymé S;Baynam G;Bello SM;Boerkoel CF;Boycott KM;Brudno M;Buske OJ;Chinnery PF;Cipriani V;Connell LE;Dawkins HJ;DeMare LE;Devereau AD;de Vries BB;Firth HV;Freson K;Greene D;Hamosh A;Helbig I;Hum C;Jähn JA;James R;Krause R;F Laulederkind SJ;Lochmüller H;Lyon GJ;Ogishima S;Olry A;Ouwehand WH;Pontikos N;Rath A;Schaefer F;Scott RH;Segal M;Sergouniotis PI;Sever R;Smith CL;Straub V;Thompson R;Turner C;Turro E;Veltman MW;Vulliamy T;Yu J;von Ziegenweidt J;Zankl A;Züchner S;Zemojtel T;Jacobsen JO;Groza T;Smedley D;Mungall CJ;Haendel M;Robinson PN
深度表型分析被定义为对表型异常进行精确和全面的分析，其中观察和描述表型的各个组成部分。人类表型本体论（HPO; www.human-phenotype-ontology.org）项目的三个组成部分是表型词汇表、疾病表型注释和对这些进行操作的算法。这些组件正在用于计算深度表型分析和精准医学，以及将临床数据整合到转化研究中。HPO正越来越多地被国际罕见病组织、登记处、临床实验室、生物医学资源和临床软件工具等不同团体用作表型异常的标准，从而将为全球数据交换的新生努力做出贡献，以确定疾病病因。这篇更新文章回顾了自2014年首次发表核酸研究数据库文章以来HPO项目的进展，包括扩展的特定领域，如常见（复杂）疾病，表型驱动的基因组发现和诊断的新算法，跨物种映射工作与哺乳动物表型本体论的整合，改进的质量控制管道，以及增加患者友好术语。
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
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DOI：
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期刊：
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