Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study.

Bryan J GallTrevor B SmartRobin MunchSupraja KolluriHamsa TadepallyKaren Phaik Har LimZachary P DemkoPeter BennVivienne SouterNina SanapareddyDianne Keen-Kim

Published in: Molecular genetics & genomic medicine (2022)

While automation in genetic variant interpretation holds promise, there is still a need for manual review of the output. Additional validation of automated variant interpretation methods should be conducted.

Keyphrases

high throughput
deep learning
big data
clinical evaluation