System for functional annotation of single nucleotide polymorphisms

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dc.contributor.authorBendl, Jaroslav
dc.contributor.authorZendulka, Jaroslav
dc.contributor.editorPihera, Josef
dc.contributor.editorSteiner, František
dc.date.accessioned2012-11-26T14:02:22Z
dc.date.available2012-11-26T14:02:22Z
dc.date.issued2012
dc.description.abstract-translatedSingle nucleotide polymorphisms are the substitution of one nucleotide in the DNA sequence that may or may not have phenotypic consequences. Here we describe a new system for ranking non-synonymous protein substitutions by their deleterious effects. The computational core of the proposed system is based on a rational combination of the results from the selected subset of publicly available tools. The weight coefficients for the individual tools are calculated on the basis of their confidence score and their reliabilities are assigned accordingly to their performance measured on the extensive dataset. The validation of the performance on the dataset consisting of 5 000 substitutions shows that overall accuracy of the system was improved by 6% in comparison to the simple majority vote.en
dc.format5 s.cs
dc.format.mimetypeapplication/pdf
dc.identifier.citationElectroscope. 2012, č. 5, EEICT 2012.cs
dc.identifier.issn1802-4564
dc.identifier.urihttp://hdl.handle.net/11025/709
dc.language.isoenen
dc.publisherZápadočeská univerzita v Plzni, Fakulta elektrotechnickács
dc.relation.ispartofseriesElectroscopecs
dc.rights© 2012 Electroscope. All rights reserved.en
dc.rights.accessopenAccessen
dc.subjectjednonukleotidový polymorfismuscs
dc.subjectfunkční anotacecs
dc.subjectpočítačové systémycs
dc.subject.translatedsingle nucleotide polymorphismsen
dc.subject.translatedfunctional annotationen
dc.subject.translatedcomputer systemsen
dc.titleSystem for functional annotation of single nucleotide polymorphismsen
dc.typekonferenční příspěvekcs
dc.typeconferenceObjecten
dc.type.statusPeer-revieweden
dc.type.versionpublishedVersionen

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Číslo 5 - EEICT 2012 (2012)
Číslo 5 - EEICT 2012 (2012)