PON-mt-tRNA is a posterior probability-based method for classification of mitochondrial tRNA variations.
It integrates machine learning-based probability of pathogenicity and evidence-based likelihood of pathogenicity to predict the posterior probability of pathogenicity.
In absence of evidence, it classifies the variations based on the machine learning-based probability of pathogenicity.
It is trained and tested on variants classified as definitely pathogenic and definitely neutral by
Yarham et al..
A manuscript describing PON-mt-tRNA has been published in Nucleic Acids Research.
