MOVA: new method for evaluating the pathogenicity of missense variants using AlphaFold2
Niigata, Japan - The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA). Rare variants in the causative gene of ALS are present in 10-30% of sporadic ALS cases, which highlights the need for accurate and efficient pathogenicity prediction methods. To predict the pathogenicity of the variants, in silico analysis methods are commonly used. In some ALS causal genes, the mutations are concentrated in specific regions, and the accuracy of pathogenicity prediction can be improved by considering the positional information of the variants. ...








