RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease
Hai Lin, Katherine A. Gallaway, Rudong Li, Jill L. Reiter, Matthew E. Mort, D.N. Cooper, Yaoqi Zhou, Michael T. Eadon, M. Eileen Dolan, Joseph Ipe, Todd C. Skaar, Yunlong Liu
The paper develops regSNPs-intron, a random forest classifier to prioritize intronic SNVs for disease, validated using ASSET-seq functional assays.
bioRxiv · Jan 9, 2019 · PreprintBioinformatics