Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patients
Graciela Uría-Regojo, Lidia Fernández‐Caballero, Aroa López-Alcojor, Lucía López-López, Yolanda Benítez, Cristina Rodilla, Almudena Fernández, María José Trujillo-Tiebas, Ana Osório, Marta Cortón, Berta Almoguera, Carmen Ayuso, Pablo Mínguez
This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.
medRxiv · Jul 14, 2026 · PreprintGenetic & Genomic Medicine