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.
Outside traditional drug development pathways, clinicians and scientists face the challenge of systematically evaluating whether individual patients with severe ultrarare diseases might be eligible for and potentially benefit from individualized mutation-specific RNA therapies.
Altogether, we established a benchmark dataset for aberrant gene underexpression prediction in 49 human tissues, addressing an unmet need in the area of high-impact variant effect prediction.
