Detail aplikovaného výsledku

PredictSNP 2.0

BENDL, J.; MUSIL, M.; ŠTOURAČ, J.; ZENDULKA, J.; DAMBORSKÝ, J.; BREZOVSKÝ, J.

Originální název

PredictSNP 2.0

Anglický název

PredictSNP 2.0

Druh

Software

Abstrakt

Thistool estimates the deleteriousness of single-nucleotide mutations inthe context of the development of Mendelian diseases. The predictionsare 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 decisionthresholds differ according to the category of variants. Thesegeneral categories are recognized: (i) regulatory, (ii) splicing,(iii) synonymous, (iv) missense and (v)nonsense variants. Theevaluation on large datasets revealed a marked benefit of thisapproach while the web interface provides easily interpretableresults for all individual tools and our consensual predictiontogether with the links to the relevant databases and on-lineservices.

Abstrakt aglicky

Thistool estimates the deleteriousness of single-nucleotide mutations inthe context of the development of Mendelian diseases. The predictionsare 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 decisionthresholds differ according to the category of variants. Thesegeneral categories are recognized: (i) regulatory, (ii) splicing,(iii) synonymous, (iv) missense and (v)nonsense variants. Theevaluation on large datasets revealed a marked benefit of thisapproach while the web interface provides easily interpretableresults for all individual tools and our consensual predictiontogether with the links to the relevant databases and on-lineservices.

Klíčová slova

SNP effect; deleteriousness prediction; SNP prediction; mutation analysis; Mendelian diseases

Klíčová slova anglicky

SNP effect; deleteriousness prediction; SNP prediction; mutation analysis; Mendelian diseases

Umístění

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

Licenční poplatek

Využití výsledku jiným subjektem je v některých případech možné bez nabytí licence

www

https://www.fit.vut.cz/research/product/471/