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