Challenges and perspectives in implementing whole-exome sequencing in Algeria lessons from a fully autonomous in-country cohort
Tarik Ait Mouhoub, Kouider Beladgham, Sihem Brahimi…·Belaïd Imessaoudene
This study implements whole-exome sequencing in Algeria for neurodevelopmental disorders, achieving molecular diagnoses in 8/14 cases and highlighting challenges in variant interpretation and database underrepresentation.