Genetic & Genomic MedicinemedRxivPreprint
Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile
Gabriela Moreno Yates, Boris Rebolledo‐Jaramillo, Daniela Böhme…·Gabriela M. Repetto
This study evaluates factors influencing diagnostic yield of exome sequencing in Chilean patients with rare diseases, finding that NDD and MCA increase diagnostic yield while prior gene panel testing decreases it.
DOI 10.64898/2026.02.12.26345769