Article

RegSNPs-Intron: A computational framework for prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

2019-01-09

Abstract excerpt

A large number of single nucleotide variants (SNVs) in the human genome are known to be responsible for inherited disease. An even larger number of SNVs, particularly those located in introns, have yet to be investigated for their pathogenic potential. Using known pathogenic and neutral intronic SNVs (iSNVs), we developed the regSNPs-intron algorithm based on a random forest classifier that integrates RNA splicing...

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Literature Corpus work: 7ab3700c-21e4-506f-8d39-3e669d707b12
DOI: 10.1101/515171

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