Conference paper

BENDL Jaroslav. Integration System for Functional Annotation of Single Nucleotide Polymorphism. In: Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3. Brno: Faculty of Information Technology BUT, 2012, pp. 340-344. ISBN 978-80-214-4462-1.
Publication language:english
Original title:Integration System for Functional Annotation of Single Nucleotide Polymorphism
Title (cs):Integrační systém pro anotaci funkce bodového nukleotidového polymorfismu
Pages:340-344
Proceedings:Proceedings of the 18th Conference STUDENT EEICT 2012 Volume 3
Conference:Student EEICT 2012
Place:Brno, CZ
Year:2012
ISBN:978-80-214-4462-1
Publisher:Faculty of Information Technology BUT
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Keywords
SNP, nsSNP, pathogenicity prediction, protein substitutions
Annotation
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.
BibTeX:
@INPROCEEDINGS{
   author = {Jaroslav Bendl},
   title = {Integration System for Functional Annotation of Single
	Nucleotide Polymorphism},
   pages = {340--344},
   booktitle = {Proceedings of the 18th Conference STUDENT EEICT 2012 Volume
	3},
   year = {2012},
   location = {Brno, CZ},
   publisher = {Faculty of Information Technology BUT},
   ISBN = {978-80-214-4462-1},
   language = {english},
   url = {http://www.fit.vutbr.cz/research/view_pub.php.en.iso-8859-2?id=9928}
}

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