Identification of human genetics disease causing mutations is our business
Human Splicing Finder
If most human disease-causing mutations are localized in exons, it is now recognized that from 10 to 30% of those mutations are not pathogenic because of their impact on proteins but because of their impact on splicing. This, coupled with intronic disease-causing mutations, makes the study of splicing signals a key element of mutations analysis.
The HSF system is dedicated to the identification of all splicing signals including acceptor and donor splice sites, branch points and auxiliary splicing signals (ESE and ESS). It combines multiple algorithms and matrices in a one-stop-shop for splicing signals. Furthermore, it contains an expert system to digest all predictions and provide users with an easy to understand pathogenicity prediction for any intronic or exonic mutation potentially affecting splicing. It is today the reference system for such analysis as illustrated by the thousands of citations in the literature.