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Pathogenicity Database for Identification of Disease-Causing Genetic Variations

Summary

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.

Technology Benefits

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

Technology Application

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

Detailed Technology Description

None

Country/Region

USA

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