bioRxiv / medRxiv
open access
CC BY-NC-ND 4.0
Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsy
Background and ObjectivesDeep sequencing of brain tissue in the research setting has established that mosaic variants are a major cause of malformations of cortical development (MCDs) and epilepsy. However, genetic testing in the clinical setting primarily detects germline variants using clinically
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