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A model brain over EEG results, representing an epileptic seizure

Re-annotation of Developmental and Epileptic Encephalopathy-associated genes unmasks de novo variants

A clinical scientist analyses NGS data in a laboratory (lab)

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

VAC14 syndrome study

Neurodevelopmental disorders – discovering the underlying cause and how genomic data analysis ended a 21-year diagnostic odyssey

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Enabling genomic medicine

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