Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases

Authors: Ahmad Abou Tayoun, Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, Ikram Chekroun, Maha El Naofal, Ruchi Jain, Roudha Alfalasi, Nour Halabi, Sawsan Yaslam, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed Al Marri, Stefan Du Plessis, Alawi Alsheikh-Ali