Detail publikace

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J.

Originální název

Integration System for Functional Annotation of Single Nucleotide Polymorphism

Typ

článek ve sborníku mimo WoS a Scopus

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.

Vydáno

26. 4. 2012

Nakladatel

Faculty of Information Technology BUT

Místo

Brno

ISBN

978-80-214-4462-1

Kniha

Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3

Strany od

340

Strany do

344

Strany počet

5

URL

https://www.fit.vut.cz/research/publication/9928/

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/"
}

Dokumenty

prispevek.pdf