The Genomic Landscape of Rare Disorders in the Middle East
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Abd Alwahab Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin M. Bitzan, Lemis Yavuz, , Ahmad N. Abou Tayoun
This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.
Genome Medicine · Jan 26, 2023Peer-reviewedGenetic & Genomic Medicine