DEVELOPING GENE-SPECIFIC META-PREDICTOR OF VARIANT PATHOGENICITY
Anna Rychkova, MyMy C. Buu, Curt Scharfe, Martina I. Lefterova, Justin Iver Odegaard, Iris Schrijver, Carlos E. Milla, Carlos D. Bustamante
The paper develops a gene-specific meta-predictor for variant pathogenicity using a Random Forest model trained on the CFTR gene and evaluates its performance against existing tools.
bioRxiv · Mar 10, 2017 · PreprintBioinformatics