Journal article

BENDL Jaroslav and ZENDULKA Jaroslav. Integration System for Functional Annotation of Single Nucleotide Polymorphism. ElectroScope. Plzeň: University of West Bohemia in Pilsen, 2012, vol. 2012, no. 5, p. 5. ISSN 1802-4564.
Publication language:english
Original title:Integration System for Functional Annotation of Single Nucleotide Polymorphism
Title (cs):Integrační systém pro anotaci funkce bodového nukleotidového polymorfismu
Journal:ElectroScope, Vol. 2012, No. 5, Plzeň, CZ
SNP, nsSNP, pathogenicity prediction, protein substitutions
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.
   author = {Jaroslav Bendl and Jaroslav Zendulka},
   title = {Integration System for Functional Annotation of Single
	Nucleotide Polymorphism},
   pages = {5},
   journal = {ElectroScope},
   volume = {2012},
   number = {5},
   year = {2012},
   ISSN = {1802-4564},
   language = {english},
   url = {}

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