The NAGENdata project, led by Dr. Virginia García, aimed to harmonize and unify all clinical data collected in the 6 previous NAGEN projects (approximately 3,000 whole genomes and exomes).
This includes phenotypic and genomic data, as well as the creation of a secure research data ecosystem to promote the sustainable development of high-quality healthcare assistance and research.
As a use case, 150 post-mortem cases of neurodegenerative diseases with confirmed pathological diagnosis were studied.
Pathologies designated as "high priority" in the Spanish National Health System's Strategy for Neurodegenerative Diseases (2016) were prioritized, focusing on early-onset cases and those with familial aggregation.
The ultimate goal is to unify the information from previous projects along with their clinical data, ensuring quality, privacy, and traceability.
This data bank constitutes a unique resource for research into pathologies such as Alzheimer's, Parkinson's disease, or ALS.
NAGENdata has developed a FAIR (Findable, Accessible, Interoperable, and Reusable) data ecosystem that complies with demanding ethical and legal standards.
It utilizes the Beacon v2 model, which allows for secure queries of federated genomic databases, contributing to international research without compromising participant confidentiality.
The consortium is formed by Navarrabiomed, the University Hospital of Navarra (HUN), Nasertic, YSIUM, Data Value Management, and ADItech, with funding from the Government of Navarra.