Publication Details

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J. Integration System for Functional Annotation of Single Nucleotide Polymorphism. Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3. Brno: Faculty of Information Technology BUT, 2012. p. 340-344. ISBN: 978-80-214-4462-1.
Czech title
Integrační systém pro anotaci funkce bodového nukleotidového polymorfismu
Type
conference paper
Language
English
Authors
Bendl Jaroslav, Ing., Ph.D.
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
340–344
Proceedings
Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3
Conference
Student EEICT 2012, Brno, CZ
ISBN
978-80-214-4462-1
Publisher
Faculty of Information Technology BUT
Place
Brno
BibTeX 
@inproceedings{BUT192805,
  author="Jaroslav {Bendl}",
  title="Integration System for Functional Annotation of Single Nucleotide Polymorphism",
  booktitle="Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3",
  year="2012",
  pages="340--344",
  publisher="Faculty of Information Technology BUT",
  address="Brno",
  isbn="978-80-214-4462-1",
  url="https://www.fit.vut.cz/research/publication/9928/"
}
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