High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Quentin ThomasAntonio VitobelloFrederic Tran Mau-ThemYannis DuffourdAgnès FromontMaurice GiroudBenoit DaubailAgnès Jacquin-PiquesMarie Hervieu-BegueThibault MoreauGuy-Victor OssebyPhilippine GarretSophie NambotJulian Delanne Ange-Line BruelArthur SorlinPatrick CallierAnne-Sophie Denomme-PichonLaurence Olivier-FaivreYannick BéjotChristophe PhilippeChristel Thauvin-RobinetSébastien Moutton

Published in: Journal of medical genetics (2021)

This study shows that cES is a powerful tool for the daily practice of neurogenetics offering an efficient (43%) and appropriate approach for clinically and genetically complex and heterogeneous disorders.

Keyphrases

high efficiency
primary care
healthcare
physical activity
quality improvement
single cell
copy number
gene expression
genome wide
high throughput sequencing