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

Authors: 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 A. Almarri, Stefan Du Plessis, Alawi Alsheikh-Ali, Ahmad Abou Tayoun

Published: 2025-03-14

DOI: 10.1038/s41467-025-57695-9

Source: Full article

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Abstract

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