Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.

Angeliki VakrinouRavishankara BellampalliMedine I GulcebiHelena Martins CustodioGenomics England Research ConsortiumSimona BalestriniSanjay M Sisodiya

Published in: Journal of neurology, neurosurgery, and psychiatry (2023)

Comprehensive utilisation of genetic data spreads beyond the search for causal variants alone and can be extended to additional clinical benefits such as identifying pharmacogenomic biomarkers, which can guide pharmacotherapy for genetically-susceptible individuals.

Keyphrases

copy number
clinical practice
genome wide
electronic health record
big data
smoking cessation
clinical decision support
dna methylation
gene expression
data analysis
deep learning