Genetic & Genomic MedicineNucleic Acids ResearchPeer-reviewed
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients
Francisco Requena, Hamza Hadj Abdallah, Alejandro García…·Antonio Rausell
CNVxplorer is a web tool that improves CNV interpretation in rare disease patients by integrating clinical, genomic, and epigenomic features to enhance diagnostic accuracy.
22 citations