Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab Emirates
Budour Alkaf, Wadha Mohammed Abdulrahman, Sahar Al Marzooqi, Daniel Sanchez, Andreas Henschel, Aashish R. Jha, Abdelrahman Saad, Ahmed Al Awadhi, Albarah El-Khani, Aleksander Medvedev, Amna Alsuwaidi, Antonio Milano, Asma Al Mannaei, Ayesha Al Ali, Azza Attia, , Tiago R. Magalhães
The paper reassesses pathogenicity of variants in inherited retinal diseases using population-scale genomics in the UAE, identifying clinically relevant variants and highlighting discrepancies between clinical and population-based classifications.
medRxiv · Oct 14, 2025 · PreprintGenetic & Genomic Medicine