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A comparative medical genomics approach may facilitate the interpretation of rare missense variation.

Bushra HaqueGeorge GuirguisMeredith CurtisHera MohsinSusan WalkerMichelle M MorrowGregory Costain
Published in: Journal of medical genetics (2024)
Cross-species comparisons could facilitate the interpretation of rare missense variation. These results provide further support for comparative medical genomics approaches that connect big data initiatives in human and veterinary genetics.
Keyphrases
  • big data
  • artificial intelligence
  • healthcare
  • intellectual disability
  • machine learning
  • single cell
  • endothelial cells
  • induced pluripotent stem cells
  • autism spectrum disorder
  • genetic diversity