Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Go Hun SeoHane LeeJungsul LeeHeonjong HanYou Kyung ChoMinji KimYunha ChoiJeongmin ChoiIn Hee ChoiSeonkyeong RhieKyu Young ChaeYoo-Mi KimChong Kun CheonSu Jin KimJieun LeeEungu KangJung Hye ByeonHee Joon YuYoung-Lim ShinArum OhWoo Jin KimMi-Sun YumBeom-Hee LeeBaik-Lin Eun

Published in: Molecular medicine (Cambridge, Mass.) (2022)

Daily updated databases and reanalysis systems enhance the diagnostic performance in patients with NDD/ID, contributing to the rapid diagnosis of undiagnosed patients by applying the latest molecular genetic information.

Keyphrases

end stage renal disease
physical activity
chronic kidney disease
newly diagnosed
ejection fraction
machine learning
copy number
peritoneal dialysis
prognostic factors
high throughput
deep learning
big data
patient reported outcomes
artificial intelligence