Article
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.
Genome biology - 28 Nov 2019
Lin Hai, Hargreaves Katherine A, Li Rudong, Reiter Jill L, Wang Yue, Mort Matthew, Cooper David N, Zhou Yaoqi, Zhang Chi, Eadon Michael T, Dolan M Eileen, Ipe Joseph, Skaar Todd C, Liu Yunlong
Abstract excerpt
Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the RegSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing, protein structure, and evolutionary conservation features. RegSNPs-intron showed excellent...
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