Faculty of Information Technology, BUT

Publication Details

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL Jaroslav and ZENDULKA Jaroslav. Integration System for Functional Annotation of Single Nucleotide Polymorphism. ElectroScope, vol. 2012, no. 5, p. 5. ISSN 1802-4564.
Czech title
Integrační systém pro anotaci funkce bodového nukleotidového polymorfismu
Type
journal article
Language
english
Authors
Keywords
SNP, nsSNP, pathogenicity prediction, protein substitutions
Abstract
This paper describes a new integrative system for ranking non-synonymous protein substitutions by their deleterious effects. The computational core of the proposed system is based on a sophisticated combination of results from the selected subset of existing tools. The weight coefficients for individual tools are calculated on the basis of their confidence score and the tool reliability which are assigned accordingly to the tool performance measured on the extensive dataset. The performance validation on the dataset consisting of 5000 substitutions shows that overall accuracy of the system was improved by 8% in comparison to the best of the integrated methods.
Published
2012
Pages
5
Journal
ElectroScope, vol. 2012, no. 5, ISSN 1802-4564
Publisher
University of West Bohemia in Pilsen
BibTeX
@ARTICLE{FITPUB9929,
   author = "Jaroslav Bendl and Jaroslav Zendulka",
   title = "Integration System for Functional Annotation of Single Nucleotide Polymorphism",
   pages = 5,
   journal = "ElectroScope",
   volume = 2012,
   number = 5,
   year = 2012,
   ISSN = "1802-4564",
   language = "english",
   url = "https://www.fit.vut.cz/research/publication/9929"
}
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