Article

S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

2018-06-20

Abstract excerpt

There are over 15,000 known variants that cause human inherited disease by disrupting RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are commonly used to predict the pathogenicity of noncoding variants, we introduce S-CAP, a tool developed specially for splicing which is better able to effectively distinguish pathogenic splicing-relevant variants from benign variants. S-CAP is a no...

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Literature Corpus work: 46b46514-3ee0-5152-9f6e-a5e374949072
DOI: 10.1101/343749

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