Publication result detail

Integration System for Functional Annotation of Single Nucleotide Polymorphism

BENDL, J.

Original Title

Integration System for Functional Annotation of Single Nucleotide Polymorphism

English Title

Integration System for Functional Annotation of Single Nucleotide Polymorphism

Type

Paper in proceedings outside WoS and Scopus

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.

English 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

Key words in English

SNP, nsSNP, pathogenicity prediction, protein substitutions

Authors

BENDL, J.

Released

26.04.2012

Publisher

Faculty of Information Technology BUT

Location

Brno

ISBN

978-80-214-4462-1

Book

Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3

Pages from

340

Pages to

344

Pages count

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/"
}

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