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Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.

Adam Colin GunningCaroline Fiona Wright
Published in: Genome medicine (2023)
We propose using structurally equivalent positions across related protein domains from different genes to augment evidence for variant co-localisation when classifying novel missense variants. Additionally, we advocate adopting a numerical evidence-based approach to integrating diverse data in variant interpretation.
Keyphrases
  • electronic health record
  • intellectual disability
  • big data
  • machine learning
  • deep learning
  • copy number
  • genome wide
  • gene expression
  • small molecule
  • genome wide identification