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