Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Henrike O Heyne Mykyta Artomov Florian Battke Claudia Bianchini Douglas R SmithNora LiebmannVasisht TadigotlaChristine M StanleyDennis LalHeidi L RehmHolger LercheMark J DalyIngo HelbigSaskia BiskupYvonne G WeberJohannes R Lemke

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

We show that improvement of panel design increased diagnostic yield over time, but panels still display genes with low or no diagnostic yield. With our data, we hope to improve current diagnostic NDD+E panel design and provide a resource of ultrarare variants in individuals with NDD+E to the community.

Keyphrases

genome wide
healthcare
mental health
single cell
electronic health record
cancer therapy
big data
deep learning
congenital heart disease
artificial intelligence