A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Shiva GanesanPeter D GalerKatherine L HelbigSarah E McKeownMargaret O'BrienAlexander K GonzalezAlex S FelmeisterPouya KhankhanianColin A EllisIngo Helbig

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Some aspects of the longitudinal disease histories can be reconstructed through EMR data and reveal significant gene-phenotype associations, even within closely related conditions. Gene-specific EMR footprints may enable outcome studies and clinical decision support.

Keyphrases

genome wide
clinical decision support
electronic health record
copy number
dna methylation
machine learning
genome wide identification
high throughput
cross sectional
single cell
big data
gene expression
genome wide analysis