Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Nature Medicine, Published online: 17 January 2025; doi:10.1038/s41591-024-03420-w

This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data coupled with expert panel review, leading to 500 new diagnoses in a cohort of 6,000 families with suspected rare diseases.