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

17 Jan 2025

Abstract excerpt

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855...

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PMID: 39825153
DOI: 10.1038/s41591-024-03420-w

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