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

copy number
intellectual disability
machine learning
dna methylation
single cell