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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