Article
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Nature communications - 14 Mar 2025
Sinha Shruti, Rabea Fatma, Ramaswamy Sathishkumar, Chekroun Ikram, El Naofal Maha, Jain Ruchi, Alfalasi Roudha, Halabi Nour, Yaslam Sawsan, Sheikh Hassani Massomeh, Shenbagam Shruti, Taylor Alan, Uddin Mohammed, Almarri Mohamed A, Du Plessis Stefan, Alsheikh-Ali Alawi, Abou Tayoun Ahmad
Abstract excerpt
With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly in rare disease settings, where nearly half of patients remain undiagnosed using existing technologies. Here, we report a simplified funnel-down filtration strategy aimed at enhancing the identification of...
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