D.N. Cooper

S-CAP improves pathogenicity prediction for splicing-relevant variants by reducing uncertain variants by 41% with 95% sensitivity.

The paper develops regSNPs-intron, a random forest classifier to prioritize intronic SNVs for disease, validated using ASSET-seq functional assays.

AMELIE automates Mendelian disorder diagnosis by analyzing literature and prioritizing candidate genes, achieving high diagnostic accuracy for singleton patients.