The Human Phenotype Ontology in 2024: phenotypes around the world.
The Human Phenotype Ontology in 2024: phenotypes around the world.
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2024年人类表型本体论：世界各地的表型。
DOI：
10.1093/nar/gkad1005
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发表时间：
2024-01-05
影响因子：
14.9
通讯作者：
中科院分区：
文献类型：
--
作者：
人类表型本体（Human Phenotype Ontology， HPO）是一种广泛使用的资源，它全面组织和定义了人类疾病的表型特征，使计算推理成为可能，并通过语义相似度和机器学习算法支持基因组和表型分析。HPO在临床诊断和转化研究中有广泛的应用，包括基因组诊断、基因疾病发现和队列分析。近年来，世界各地的组织已经开发了HPO从英语到其他语言的翻译，并且HPO浏览器已经国际化，允许用户查看HPO术语标签，在许多情况下，除了英语之外，还可以查看十种语言的同义词和定义。自我们上一篇报告以来，共开发了2239个新的HPO术语和49235个新的HPO注释，其中许多是与精神病学、关节挛缩症、免疫学和心脏病学领域的外部团队合作的。医疗行为本体（MAxO）是对临床管理中采取的治疗和其他措施进行建模的一项新努力。最后，HPO联盟正在努力将HPO和GA4GH表型包模式整合到电子健康记录（EHRs）中，目标是在EHRs中更加标准化和可计算的罕见病数据集成。
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
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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
DOI：
10.1002/ajmg.c.31989
发表时间：
2022-06
影响因子：
3.1
作者：
Dhombres, Ferdinand;Morgan, Patricia;Chaudhari, Bimal P.;Filges, Isabel;Sparks, Teresa N.;Lapunzina, Pablo;Roscioli, Tony;Agarwal, Umber;Aggarwal, Shagun;Beneteau, Claire;Cacheiro, Pilar;Carmody, Leigh C.;Collardeau-Frachon, Sophie;Dempsey, Esther A.;Dufke, Andreas;Duyzend, Michael Henri;el Ghosh, Mirna;Giordano, Jessica L.;Glad, Ragnhild;Grinfelde, Ieva;Iliescu, Dominic G.;Ladewig, Markus S.;Munoz-Torres, Monica C.;Pollazzon, Marzia;Radio, Francesca Clementina;Rodo, Carlota;Silva, Raquel Gouveia;Smedley, Damian;Sundaramurthi, Jagadish Chandrabose;Toro, Sabrina;Valenzuela, Irene;Vasilevsky, Nicole A.;Wapner, Ronald J.;Zemet, Roni;Haendel, Melissa A.;Robinson, Peter N.
通讯作者：
Robinson, Peter N.
影响因子：
2.2
作者：
Cooper, Monica S.;Mcintosh, Anne;Scheffer, Ingrid E.
通讯作者：
Scheffer, Ingrid E.
影响因子：
11.1
作者：
Deer RR;Rock MA;Vasilevsky N;Carmody L;Rando H;Anzalone AJ;Basson MD;Bennett TD;Bergquist T;Boudreau EA;Bramante CT;Byrd JB;Callahan TJ;Chan LE;Chu H;Chute CG;Coleman BD;Davis HE;Gagnier J;Greene CS;Hillegass WB;Kavuluru R;Kimble WD;Koraishy FM;Köhler S;Liang C;Liu F;Liu H;Madhira V;Madlock-Brown CR;Matentzoglu N;Mazzotti DR;McMurry JA;McNair DS;Moffitt RA;Monteith TS;Parker AM;Perry MA;Pfaff E;Reese JT;Saltz J;Schuff RA;Solomonides AE;Solway J;Spratt H;Stein GS;Sule AA;Topaloglu U;Vavougios GD;Wang L;Haendel MA;Robinson PN
通讯作者：
Robinson PN
影响因子：
14.9
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
通讯作者：
Robinson PN