Login / Signup

Genetic influences on epilepsy outcomes: a whole-exome sequencing and healthcare records data linkage study.

Beata Fonferko-ShadrachArron S LaceyHuw StraffordCarys JonesMark BakerRobert PowellAshley AkbariRonan A LyonsDavid FordSimon ThompsonKerina H JonesSeo-Kyung ChungWilliam O PickrellMark I Rees
Published in: Epilepsia (2023)
We successfully uploaded, annotated, and linked genetic sequence data and natural language processing derived seizure frequency data to anonymised healthcare records in this proof-of concept study. We did not detect a genetic influence on real-world epilepsy outcomes but our study was limited by a small sample size. Future studies will require larger WES data to establish genetic variant contribution with epilepsy outcomes.
Keyphrases