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

基本信息

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
项目类别：
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

项目摘要

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.

项目摘要/摘要为了提高稀有疾病的诊断产量，我们在2008年开发了人类表型本体论（HPO）一种全面的生物信息学资源，提供了表型异常的标准化术语用于分析人类疾病。 HPO降低了疾病描述中的歧义 - 因此，可以更强大鉴别诊断和临床护理 - 并实现基因组数据的表型情境化诊断和精度医学。使用HPO项的鉴别诊断的计算算法的性能至关重要 HPO疾病注释的全面和深度。但是，我们当前的手册性质生物加油过程限制了这些注释的质量，深度和覆盖范围。因此，该提议是目标是通过自动化部分来扩大疾病 - 表型注释的语料库策展和扩展计算疾病模型。该项目，HPO：基因组学临床数据的计算集成，将维护和提高HPO资源，以满足越来越多的医学学科的需求 HPO。我们将通过1）自动实现HPO开发，维护和发布过程的目标，2）发展稀有疾病治疗和干预措施的代表性，以及3）扩展我们的当前计算疾病模型，以表示时间过程，性别偏见和事件的频率，并合并案例报告数据。我们还提供了一种可持续的解决方案，可以通过用户友好的，网络 - 基于门户的门户，使贡献者能够进行兽医的贡献，并建议改进本体论和注释以及发展HPO贡献者社区。总而言之，我们的项目满足了HPO进步的最紧迫需求，以确保可持续性，强大而严格的发展，使HPO资源能够支持新的社区，新应用程序和更多的医学学科。

项目成果

期刊论文数量（5）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

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

Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

DOI：
10.1016/j.jaip.2020.02.019
发表时间：
2020-05
期刊：
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
影响因子：
9.4
作者：
Gasteiger, Lukas M.;Robinson, Peter N.;Pazmandi, Julia;Boztug, Kaan;Seppanen, Mikko R. J.;Seidel, Markus G.
通讯作者：
Seidel, Markus G.

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

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