Genetic & Genomic MedicinemedRxivPreprint
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann
The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.
12 citations