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The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F15%3A00080423" target="_blank" >RIV/00216224:14310/15:00080423 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216305:26230/15:PR28670

  • Result on the web

    <a href="http://loschmidt.chemi.muni.cz/predictsnp2/" target="_blank" >http://loschmidt.chemi.muni.cz/predictsnp2/</a>

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    PredictSNP 2.0

  • Original language 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.

  • Czech name

  • Czech description

Classification

  • Type

    R - Software

  • CEP classification

    IN - Informatics

  • OECD FORD branch

Result continuities

  • Project

    <a href="/en/project/TA04021380" target="_blank" >TA04021380: Biosensor for monitoring of toxic compounds in the environment</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2015

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Internal product ID

    2_2015_LL

  • Technical parameters

    A unified web platform and consensus classifier for accurate evaluation of SNP effect by exploiting different characteristics of variants in distinct genomic regions.

  • Economical parameters

    zvýšení ročního obratu

  • Owner IČO

    00216224

  • Owner name

    MU