Open evancofer opened 5 years ago
Predict if a missense variant in an amino acid sequence is benign or pathogenic and greatly augment the amount of available training data by incorporating benign variants from primates.
I have a few other points regarding the ClinVar evaluation (I think their misclassifications on ClinVar could have had a more rigorous analysis), but they are finer points to be sure:
https://doi.org/10.1038/s41588-018-0167-z