PredictSNP 2.0

Authors:Bendl Jaroslav, Musil Miloš, Štourač Jan, Zendulka Jaroslav, Damborský Jiří, Brezovský Jan
Keywords:SNP effect; deleteriousness prediction; SNP prediction; mutation analysis; Mendelian diseases
This tool estimates the deleteriousness of single-nucleotide mutations in the context of the development of Mendelian diseases. The predictions are based on the results of existing tools: CADD, DANN, FATHMM, FunSeq2 and GWAVA. To achieve the highest possible accuracy, developed consensual functions based on category optimal decision thresholds differ according to the category of variants. These general categories are recognized: (i) regulatory, (ii) splicing, (iii) synonymous, (iv) missense and (v)nonsense variants. The evaluation on large datasets revealed a marked benefit of this approach while the web interface provides easily interpretable results for all individual tools and our consensual prediction together with the links to the relevant databases and on-line services.
Nástroj je dostupný na internetové adrese:
Uživatelský manuál je dostupný na internetové adrese:
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Pro informace o licenčních podmínkách prosím kontaktujte: Mgr. Michaela Kavková, Výzkumné centrum informačních technologií, Fakulta informačních technologií VUT v Brně, Božetěchova 2, 612 66 Brno, 541 141 470.

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