BioinformaticsbioRxivPreprint
RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease
Hai Lin, Katherine A. Gallaway, Rudong Li…·Yunlong Liu
The paper develops regSNPs-intron, a random forest classifier to prioritize intronic SNVs for disease, validated using ASSET-seq functional assays.