The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics

人类表型本体论：加速基因组学临床数据的计算整合

• 批准号: 10681348
• 负责人: MELISSA A HAENDEL
• 金额: $ 73.86万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-20 至 2026-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10681348
• 关键词: Academia; Acceleration; Address; Adopted; Adoption; Age of Onset; Algorithms; Automated Annotation; Basic Science; Biology; Cardiology; Case Study; Classification; Clinic; Clinical; Clinical Data; Clinical Management; Clinical Medicine; Collaborations; Communities; Computational algorithm; Computer Analysis; Computer software; Data; Data Reporting; Development; Diagnosis; Diagnostic; Differential Diagnosis; Discipline; Disease; Disease model; Disparate; Electronic Health Record; Ensure; Event; Face; Foundations; Frequencies; Genes; Genetic Diseases; Genome; Genomics; Goals; Guidelines; Health; Human; Immunology; Industry; International; Intervention; Laboratories; Language; Link; Location; Maintenance; Malignant Childhood Neoplasm; Manuals; Maps; Medical; Medical Genetics; Modeling; Modernization; Nature; Nephrology; Neurology; Online Systems; Ontology; Ophthalmology; Patients; Performance; Pharmacogenomics; Phenotype; Process; Publishing; Rare Diseases; Research; Resources; Seizures; Sex Bias; Standardization; Structure; Terminology; Text; Time; Translations; Variant; biobank; bioinformatics resource; biomedical ontology; causal variant; clinical care; clinical decision-making; cohort; cost effective; data exchange; diagnostic tool; disease natural history; disease phenotype; experience; genetic variant; genomic data; genomic variation; health care delivery; human disease; improved; interoperability; ontology development; patient registry; phenotypic data; precision medicine; programs; quality assurance; user-friendly; variant of unknown significance; web portal

PROJECT SUMMARY/ABSTRACT To improve diagnostic yield for rare diseases, we developed the Human Phenotype Ontology (HPO) in 2008 as a comprehensive bioinformatic resource that provides a standardized terminology of phenotypic abnormalities for the analysis of human diseases. HPO reduces ambiguity in disease descriptions—thus enabling more robust differential diagnosis and clinical care—and enables phenotypic contextualization of genomic data for diagnostics and precision medicine. The performance of computational algorithms for differential diagnostics with HPO terms depends critically on the comprehensiveness and depth of HPO annotations for diseases. However, the current manual nature of our biocuration process has limited the quality, depth, and coverage of these annotations. Therefore, this proposal's objectives are to greatly expand the corpus of disease-phenotype annotations by automating portions of the curation and expanding the computational disease model. This project, HPO: Accelerating Computational Integration of Clinical Data for Genomics, will maintain and advance HPO resources to address the needs of a growing number of medical disciplines that have adopted the HPO. We will achieve this goal by 1) automating HPO development, maintenance, and release processes, 2) developing representations of rare disease treatments and interventions, and 3) extending our current computational disease models to represent time course, sex biases, and frequency of events, and to incorporate case report data. We also provide a sustainable solution to community contribution with a user-friendly, web- based portal to enable contributors to vet and suggest improvements to the ontology and the annotations and grow the HPO contributor community. In summary, our project addresses the most pressing needs for advancements of the HPO to ensure sustainable, robust, and rigorous development, to enable HPO resources to support new communities, new applications, and more medical disciplines.

项目总结/文摘

项目成果

Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!

• DOI: 10.1002/ppul.26301
• 发表时间: 2023-04
• 期刊: PEDIATRIC PULMONOLOGY
• 影响因子: 3.1
• 作者: Knoflach, Katrin;Rapp, Christina Katharina;Schwerk, Nicolaus;Carlens, Julia;Wetzke, Martin;Emiralioglu, Nagehan;Kiper, Nural;Ring, Astrid Madsen;Buchvald, Frederik;Manali, Effrosyni;Papiris, Spyros;Reu-Hofer, Simone;Kappler, Matthias;Schieber, Alexandra;Seidl, Elias;Gothe, Florian;Robinson, Peter N.;Griese, Matthias
• 通讯作者: Griese, Matthias

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.

• DOI: 10.1016/j.jaci.2021.04.033
• 发表时间: 2022-01
• 期刊: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
• 影响因子: 14.2
• 作者: Haimel, Matthias;Pazmandi, Julia;Heredia, Raul Jimenez;Dmytrus, Jasmin;Bal, Sevgi Koestel;Zoghi, Samaneh;van Daele, Paul;Briggs, Tracy A.;Wouters, Carine;Bader-Meunier, Brigitte;Aeschlimann, Florence A.;Caorsi, Roberta;Eleftheriou, Despina;Hoppenreijs, Esther;Salzer, Elisabeth;Bakhtiar, Shahrzad;Derfalvi, Beata;Saettini, Francesco;Kusters, Maaike A. A.;Elfeky, Reem;Truck, Johannes;Riviere, Jacques G.;van der Burg, Mirjam;Gattorno, Marco;Seidel, Markus G.;Burns, Siobhan;Warnatz, Klaus;Hauck, Fabian;Brogan, Paul;Gilmour, Kimberly C.;Schuetz, Catharina;Simon, Anna;Bock, Christoph;Hambleton, Sophie;de Vries, Esther;Robinson, Peter N.;van Gijn, Marielle;Boztug, Kaan
• 通讯作者: Boztug, Kaan

[Rare-disease data standards].

• DOI: 10.1007/s00103-022-03591-2
• 发表时间: 2022-11
• 期刊: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.

• DOI: 10.1111/jcmm.17662
• 发表时间: 2023-02
• 期刊: Journal of cellular and molecular medicine
• 影响因子: 5.3