Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.

Yoonjung Yoonie JooJennifer A PachecoWilliam K ThompsonLaura J Rasmussen-TorvikLuke V RasmussenFrederick T J LinMariza de AndradeKenneth M BorthwickErwin BottingerAndrew CaganDavid S CarrellJoshua C DennyStephen B EllisOmri GottesmanJames G LinnemanJyotishman PathakPeggy L PeissigNing ShangGerard TrompAnnapoorani VeerappanMaureen E SmithRex L ChisholmAndrew J GawronM Geoffrey HayesAbel N Kho

Published in: PloS one (2023)

A systematic framework to process unstructured EHR data with NLP could advance a deep and scalable phenotyping for better patient identification and facilitate etiological investigation of a disease with multilayered data.

Keyphrases

electronic health record
clinical decision support
adverse drug
high throughput
case report
gene expression
big data
data analysis
bioinformatics analysis