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  • Splice Site Variant Analyzer: Determining the Pathogenicity of Splice Site Variants

     

    Authors: Corinne Sexton*, Mark Wadsworth*, Justin Miller*, Michael Cormier, and Perry Ridge

    Journal of Biomedical Research and Practice

    Article

    GitHub

    June, 2018

     

  • Novelty of Approach

     

    -Combines analyses from Annovar, MaxEntScan, and the Conserved Domain Database

    -Provides users with a wide range of information in a single step at runtime

    -Ranks variants in or around splice sites as deleterious or benign

     

  • Results

     

    -Using both MaxEntScan and dbscsnv11 (likelihood score) was the most accurate compared with ClinVar

    -Correctly identified 89-100% of variants as pathogenic or benign

     

  • Implications

     

    -We show that using multiple databases/approaches is more accurate

    -We provide a single-step process to query various databases

    -Provides the most comprehensive open-source pipeline to assess splice site variants