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Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants.

Hannah McConnellT Daniel AndrewsMatthew A Field
Published in: PeerJ (2021)
In this work we demonstrate that functional inference tools perform poorly on pharmacogenetic variants, particularly on subsets enriched for variants causing off-target, type B adverse drug reactions. We describe how to identify variants associated with off-target effects within PharmGKB in order to generate a training set of variants that is needed to develop new algorithms specifically for this class of variant. Development of such tools will lead to more accurate functional predictions and pave the way for the increased wide-spread adoption of pharmacogenetics in clinical practice.
Keyphrases
  • copy number
  • adverse drug
  • clinical practice
  • machine learning
  • electronic health record
  • drug induced
  • genome wide
  • dna methylation
  • mass spectrometry