Assessing performance of pathogenicity predictors using clinically-relevant variant datasets
Adam C. Gunning, Verity Fryer, James Fasham, Andrew H. Crosby, Sian Ellard, Emma L. Baple, Caroline Fiona Wright
The paper evaluates pathogenicity predictors using two clinically-relevant variant datasets, finding that newer meta-predictors outperform older tools but still have limited accuracy in clinical data.
Journal of Medical Genetics · Aug 25, 2020Peer-reviewedGenomics