Detail publikace

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J. ZENDULKA, J.

Originální název

Integration System for Functional Annotation of Single Nucleotide Polymorphism

Typ

článek v časopise - ostatní, Jost

Jazyk

angličtina

Originální abstrakt

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.

Klíčová slova

SNP, nsSNP, pathogenicity prediction, protein substitutions

Autoři

BENDL, J.; ZENDULKA, J.

Rok RIV

2012

Vydáno

12. 10. 2012

ISSN

1802-4564

Periodikum

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

Ročník

2012

Číslo

5

Stát

Česká republika

Strany počet

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/"
}