Re-annotation of Developmental and Epileptic Encephalopathy-associated genes unmasks de novo variants
Maximizing NGS lab efficiency in the analysis and interpretation of genomic data
What is a clinical decision support platform?
Poster: Towards Improved Next Generation Sequencing for Ultrasound Abnormalities (INGENIOUS) using cell-free DNA
Poster: Diagnosis of fetal structural abnormalities using whole exome sequencing: a single centre study
Neurodevelopmental disorders – discovering the underlying cause and how genomic data analysis ended a 21-year diagnostic odyssey
Enabling genomic medicine