Maiella Sylvie, Olry Annie, Hanauer Marc, Lanneau Valérie, Lourghi Halima, Donadille Bruno, Rodwell Charlotte, Köhler Sebastian, Seelow Dominik, Jupp Simon, Parkinson Helen, Groza Tudor, Brudno Michael, Robinson Peter N, Rath Ana
INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France.
NeuroCure Cluster of Excellence, Charité Universitätsklinikum, Charitéplatz 1, 10117 Berlin, Germany.
Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7.
HIPBI-RD (Harmonising phenomics information for a better interoperability in the rare disease field) is a three-year project which started in 2016 funded via the E-Rare 3 ERA-NET program. This project builds on three resources largely adopted by the rare disease (RD) community: Orphanet, its ontology ORDO (the Orphanet Rare Disease Ontology), HPO (the Human Phenotype Ontology) as well as PhenoTips software for the capture and sharing of structured phenotypic data for RD patients. Our project is further supported by resources developed by the European Bioinformatics Institute and the Garvan Institute. HIPBI-RD aims to provide the community with an integrated, RD-specific bioinformatics ecosystem that will harmonise the way phenomics information is stored in databases and patient files worldwide, and thereby contribute to interoperability. This ecosystem will consist of a suite of tools and ontologies, optimized to work together, and made available through commonly used software repositories. The project workplan follows three main objectives: The HIPBI-RD ecosystem will contribute to the interpretation of variants identified through exome and full genome sequencing by harmonising the way phenotypic information is collected, thus improving diagnostics and delineation of RD. The ultimate goal of HIPBI-RD is to provide a resource that will contribute to bridging genome-scale biology and a disease-centered view on human pathobiology. Achievements in Year 1.
HIPBI-RD（协调罕见病领域的表型组学信息以实现更好的互操作性）是一个为期三年的项目，于2016年启动，由E-Rare 3欧洲罕见病研究网络计划资助。该项目基于罕见病（RD）社区广泛采用的三种资源：Orphanet、其本体ORDO（Orphanet罕见病本体）、HPO（人类表型本体）以及用于捕获和共享RD患者结构化表型数据的PhenoTips软件。我们的项目还得到了欧洲生物信息学研究所和加尔万研究所开发的资源的支持。HIPBI-RD旨在为社区提供一个集成的、特定于RD的生物信息学生态系统，该系统将协调全球数据库和患者文件中表型组学信息的存储方式，从而促进互操作性。这个生态系统将由一套工具和本体组成，经过优化可协同工作，并通过常用的软件存储库提供。项目工作计划遵循三个主要目标：HIPBI-RD生态系统将通过协调表型信息的收集方式，为通过外显子组和全基因组测序鉴定出的变异的解释做出贡献，从而改善RD的诊断和描述。HIPBI-RD的最终目标是提供一种资源，有助于弥合基因组规模生物学与以疾病为中心的人类病理生物学观点之间的差距。第一年的成果。
