背景:迄今为止,没有可公开访问的平台捕获和合成基因型的所有分层维度,在先天免疫错误(IEI)领域发表的表型和机理信息。这样的平台将代表IEI的广泛和复杂的景观,并可以提高疑似IEI患者的诊断率,仍然低得令人无法接受。
目标:要创建一个专业策划的,以病人为中心,多维IEI数据库,可实现汇总和复杂的数据询问,并促进社区中不同利益相关者的参与。
方法:数据库结构是按照以主题为中心的模型设计的,用SQL编写。Web应用程序是用PHP编写的,HTML,CSS和JavaScript存储在GenIA中的所有数据都是通过手动审查已发表的研究文章来提取的。
结果:我们完成了24个先导基因的数据收集和管理。利用这些数据,我们举例说明了GenIA如何提供对结构化,纵向,更彻底,比现有数据库全面和最新的IEI知识,比如ClinGen,HPO,ClinVar或OMIM,GenIA打算与之吻合。
结论:基因致力于准确捕获广泛的遗传,机械学,以及在IEI中发现的表型异质性,以及与个体基因和条件相关的遗传范例和诊断陷阱。IEI社区的参与将有助于促进GenIA成为支持和改善知识共享的持久资源,研究,遗传性免疫病患者的诊断和护理。
BACKGROUND: To date, no publicly accessible platform has captured and synthesized all of the layered dimensions of genotypic, phenotypic, and mechanistic information published in the field of inborn errors of immunity (IEIs). Such a platform would represent the extensive and complex landscape of IEIs and could increase the rate of diagnosis in patients with a suspected IEI, which remains unacceptably low.
OBJECTIVE: Our aim was to create an expertly curated, patient-centered, multidimensional IEI database that enables aggregation and sophisticated data interrogation and promotes involvement from diverse stakeholders across the community.
METHODS: The database structure was designed following a subject-centered model and written in Structured Query Language (SQL). The web application is written in Hypertext Preprocessor (PHP), Hypertext Markup Language (HTML), Cascading Style Sheets (CSS), and JavaScript. All data stored in the Genetic Immunology Advisor (GenIA) are extracted by manually reviewing published research articles.
RESULTS: We completed data collection and curation for 24 pilot genes. Using these data, we have exemplified how GenIA can provide quick access to structured, longitudinal, more thorough, comprehensive, and up-to-date IEI knowledge than do currently existing databases, such as ClinGen, Human Phenotype Ontology (HPO), ClinVar, or Online Mendelian Inheritance in Man (OMIM), with which GenIA intends to dovetail.
CONCLUSIONS: GenIA strives to accurately capture the extensive genetic, mechanistic, and phenotypic heterogeneity found across IEIs, as well as genetic paradigms and diagnostic pitfalls associated with individual genes and conditions. The IEI community\'s involvement will help promote GenIA as an enduring resource that supports and improves knowledge sharing, research, diagnosis, and care for patients with genetic immune disease.