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DVA: predicting the functional impact of single nucleotide missense variants.

Dong WangJie LiEdwin WangYadong Wang
Published in: BMC bioinformatics (2024)
DVA is an effective framework for identifying the functional impact of disease missense variants based on a comprehensive feature set. Based on different datasets, DVA shows its generalization ability and robustness, and it also provides innovative ideas for the study of the functional mechanism and impact of SNVs.
Keyphrases
  • intellectual disability
  • gene expression
  • autism spectrum disorder
  • rna seq