Pathogenicity Database for Identification of Disease-Causing Genetic Variations
This technology is a database of transcript-inferred pathogenicity (TraP) scores that evaluate a single nucleotide variant’s ability to cause disease by affecting splicing and transcription.
High accuracy (92%)High specificity (>97%) Pre-computed for ~3.9 billions genetic substitutions Able to identify synonymous and intronic genetic variations Capable of scoring up to one hundred thousand variants in a single evaluation
Identification of non-coding variants involved in diseaseIdentification of risk factors for disease developmentDevelopment of sequencing-based diagnosticsEnhanced in-utero screening for lethal and devastating diseasesPortable and handheld genomic analysis tools Development of new therapies that target non-coding variants
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美国
