In its first year, ERDERA has brought together 10 000 harmonised genomic and phenotypic datasets from unsolved rare disease cases across Europe, creating a secure, standardised and scalable resource.
Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
