GenIA, the Genetic Immunology Advisor database for inborn errors of immunity

Abstract

BackgroundTo date, no publicly accessible platform captures and synthesizes all the layered dimensions of genotypic, phenotypic and mechanistic information published in the field of inborn errors of immunity (IEI). Such a platform would represent the extensive and complex landscape of IEIs and could increase the diagnostic rate in patients with suspected IEI, which remains unacceptably low. ObjectiveTo create an expertly curated, patient-centered, multi-dimensional IEI database that enables aggregation and sophisticated data interrogation and promotes involvement from diverse stakeholders across the community. MethodsThe database structure was designed following a subject-centered model and written in SQL. The web application is written in PHP, HTML, CSS and JavaScript. All data stored in GenIA is extracted by manually reviewing published research articles. ResultsWe completed data collection and curation for 24 pilot genes. Using these data, we exemplify how GenIA can provide quick access to a structured, longitudinal, more thorough, comprehensive and up-to-date IEI knowledge than currently existing databases, such as ClinGen, HPO, ClinVar or OMIM, with which GenIA intends to dovetail. ConclusionsGenIA 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.