Gene identity, not variant effect, dominates ClinVar benchmarks of missense pathogenicity predictors
It is found that this test to judge whether a computer program predicts whether a genetic variant causes disease is easier to pass than it looks, and about half the advantage held by programs trained on clinical data disappears once the gene pattern is removed.
Saad Harrizi, I. Nait Irahal, Kabine Mostafa et al.
· bioRxiv · 0 citations