Product Details

PredictSNP 2.0

Created: 2015

Czech title
PredictSNP 2.0
Type
software
License
optional - free
Authors
Bendl Jaroslav, Ing. (DIFS FIT BUT)
Musil Miloš, Ing. (DIFS FIT BUT)
Štourač Jan (LL)
Zendulka Jaroslav, doc. Ing., CSc. (DIFS FIT BUT)
Damborský Jiří, prof. Mgr., Dr. (LL)
Brezovský Jan, Mgr., Ph.D. (LL)
Keywords
SNP effect; deleteriousness prediction; SNP prediction; mutation analysis; Mendelian diseases
Description
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.
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