Publication Details

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J.; ZENDULKA, J. Integration System for Functional Annotation of Single Nucleotide Polymorphism. ElectroScope - http://www.electroscope.zcu.cz, 2012, vol. 2012, no. 5, p. 0-0. ISSN: 1802-4564.

Czech title

Integrační systém pro anotaci funkce bodového nukleotidového polymorfismu

Type

journal article

Language

English

Authors

Bendl Jaroslav, Ing., Ph.D.
Zendulka Jaroslav, doc. Ing., CSc. (UIFS)

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

Journal

ElectroScope - http://www.electroscope.zcu.cz, vol. 2012, no. 5, ISSN 1802-4564

BibTeX

@article{BUT96939,
  author="Jaroslav {Bendl} and Jaroslav {Zendulka}",
  title="Integration System for Functional Annotation of Single Nucleotide Polymorphism",
  journal="ElectroScope - http://www.electroscope.zcu.cz",
  year="2012",
  volume="2012",
  number="5",
  pages="5",
  issn="1802-4564",
  url="https://www.fit.vut.cz/research/publication/9929/"
}