Publication detail

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J. ZENDULKA, J.

Original Title

Integration System for Functional Annotation of Single Nucleotide Polymorphism

Type

journal article - other

Language

English

Original 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.

Keywords

SNP, nsSNP, pathogenicity prediction, protein substitutions

Authors

BENDL, J.; ZENDULKA, J.

RIV year

2012

Released

12. 10. 2012

ISBN

1802-4564

Periodical

ElectroScope - http://www.electroscope.zcu.cz

Year of study

2012

Number

5

State

Czech Republic

Pages count

5

URL

https://www.fit.vut.cz/research/publication/9929/

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/"
}

Documents

r6c5c2.pdf