Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.

Deborah Schofield Luke Rynehart Rupendra N ShresthaSusan M WhiteZornitza Stark

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

Use of ES in suspected monogenic disorders becomes increasingly cost-effective as the benefits of ES data reanalysis, cascade testing in first-degree relatives, and parental reproductive outcomes are incorporated into modeling.

Keyphrases

pulmonary embolism
electronic health record
type diabetes
big data
gene expression
copy number
artificial intelligence
deep learning
high throughput sequencing