Result Details
Integration System for Functional Annotation of Single Nucleotide Polymorphism
Zendulka Jaroslav, doc. Ing., CSc., DIFS (FIT)
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.
SNP, nsSNP, pathogenicity prediction, protein substitutions
@article{BUT96939,
author="Jaroslav {Bendl} and Jaroslav {Zendulka}",
title="Integration System for Functional Annotation of Single Nucleotide Polymorphism",
journal="ElectroScope - http://www.electroscope.zcu.cz",
year="2012",
volume="2012",
number="5",
pages="5",
issn="1802-4564",
url="https://www.fit.vut.cz/research/publication/9929/"
}Centrum excelence IT4Innovations, MŠMT, Operační program Výzkum a vývoj pro inovace, ED1.1.00/02.0070, start: 2011-01-01, end: 2015-12-31, completed
Security-Oriented Research in Information Technology, MŠMT, Institucionální prostředky SR ČR (např. VZ, VC), MSM0021630528, start: 2007-01-01, end: 2013-12-31, running