The Human Phenotype Ontology in 2021.
The Human Phenotype Ontology in 2021.
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DOI：
10.1093/nar/gkaa1043
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发表时间：
2021-01-08
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;Gargano M;Matentzoglu N;Carmody LC;Lewis-Smith D;Vasilevsky NA;Danis D;Balagura G;Baynam G;Brower AM;Callahan TJ;Chute CG;Est JL;Galer PD;Ganesan S;Griese M;Haimel M;Pazmandi J;Hanauer M;Harris NL;Hartnett MJ;Hastreiter M;Hauck F;He Y;Jeske T;Kearney H;Kindle G;Klein C;Knoflach K;Krause R;Lagorce D;McMurry JA;Miller JA;Munoz-Torres MC;Peters RL;Rapp CK;Rath AM;Rind SA;Rosenberg AZ;Segal MM;Seidel MG;Smedley D;Talmy T;Thomas Y;Wiafe SA;Xian J;Yüksel Z;Helbig I;Mungall CJ;Haendel MA;Robinson PN
人类表型本体（Human Phenotype Ontology，HPO，https://hpo.jax.org）于2008年推出，旨在提供一个全面的逻辑标准来描述和计算分析人类疾病中发现的表型异常。HPO现在是表型交换的全球标准。HPO自成立以来稳步发展，这得益于来自不同学科的临床专家和研究人员的巨大贡献。在这里，我们提出了最近的主要扩展的HPO神经病学，肾脏病学，免疫学，肺病学，新生儿筛查，和其他领域。例如，癫痫发作子本体现在反映了国际抗癫痫联盟（ILAE）指南，这些增强已经显示出临床有效性。我们提出了新的努力，以协调计算定义的表型异常的HPO和多种表型本体用于动物模型的疾病。这些努力将通过提高跨物种表型匹配的准确性和范围而使Exomiser等软件受益。计算建模策略所使用的HPO定义疾病实体和表型特征，并区分它们进行了详细的解释。我们还报告了最近的努力，翻译成土著语言的HPO。最后，我们总结了在电子健康档案系统中使用HPO的最新进展。
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
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影响因子：
14.9
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
通讯作者：
Robinson PN
影响因子：
14.9
作者：
Köhler S;Doelken SC;Mungall CJ;Bauer S;Firth HV;Bailleul-Forestier I;Black GC;Brown DL;Brudno M;Campbell J;FitzPatrick DR;Eppig JT;Jackson AP;Freson K;Girdea M;Helbig I;Hurst JA;Jähn J;Jackson LG;Kelly AM;Ledbetter DH;Mansour S;Martin CL;Moss C;Mumford A;Ouwehand WH;Park SM;Riggs ER;Scott RH;Sisodiya S;Van Vooren S;Wapner RJ;Wilkie AO;Wright CF;Vulto-van Silfhout AT;de Leeuw N;de Vries BB;Washingthon NL;Smith CL;Westerfield M;Schofield P;Ruef BJ;Gkoutos GV;Haendel M;Smedley D;Lewis SE;Robinson PN
通讯作者：
Robinson PN
影响因子：
3.7
作者：
Griese, Matthias;Irnstetter, Armin;Kroener, Carolin
通讯作者：
Kroener, Carolin
DOI：
10.1038/s41436-020-0923-1
发表时间：
2020-12
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Ganesan S;Galer PD;Helbig KL;McKeown SE;O'Brien M;Gonzalez AK;Felmeister AS;Khankhanian P;Ellis CA;Helbig I
通讯作者：
Helbig I
影响因子：
14.9
作者：
Bradford Y;Conlin T;Dunn N;Fashena D;Frazer K;Howe DG;Knight J;Mani P;Martin R;Moxon SA;Paddock H;Pich C;Ramachandran S;Ruef BJ;Ruzicka L;Bauer Schaper H;Schaper K;Shao X;Singer A;Sprague J;Sprunger B;Van Slyke C;Westerfield M
通讯作者：
Westerfield M