Product Details
PredictSNP 2.0
Created: 2015
Musil Miloš, Ing., Ph.D. (DIFS)
Štourač Jan
Zendulka Jaroslav, doc. Ing., CSc. (UIFS)
Damborský Jiří, prof. Mgr., Dr. (UMEL)
Brezovský Jan
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:http://loschmidt.chemi.muni.cz/predictsnp2/Uživatelský manuál je dostupný na internetové adrese:http://loschmidt.chemi.muni.cz/predictsnp2/docs/userguide.pdf