Title:	System for functional annotation of single nucleotide polymorphisms
Authors:	Bendl, Jaroslav Zendulka, Jaroslav
Citation:	Electroscope. 2012, č. 5, EEICT 2012.
Issue Date:	2012
Publisher:	Západočeská univerzita v Plzni, Fakulta elektrotechnická
Document type:	konferenční příspěvek conferenceObject
URI:	http://147.228.94.30/images/PDF/Rocnik2012/Cislo5_2012/r6c5c2.pdf http://hdl.handle.net/11025/709
ISSN:	1802-4564
Keywords:	jednonukleotidový polymorfismus;funkční anotace;počítačové systémy
Keywords in different language:	single nucleotide polymorphisms;functional annotation;computer systems
Abstract in different language:	Single nucleotide polymorphisms are the substitution of one nucleotide in the DNA sequence that may or may not have phenotypic consequences. Here we describe a new system for ranking non-synonymous protein substitutions by their deleterious effects. The computational core of the proposed system is based on a rational combination of the results from the selected subset of publicly available tools. The weight coefficients for the individual tools are calculated on the basis of their confidence score and their reliabilities are assigned accordingly to their performance measured on the extensive dataset. The validation of the performance on the dataset consisting of 5 000 substitutions shows that overall accuracy of the system was improved by 6% in comparison to the simple majority vote.
Rights:	© 2012 Electroscope. All rights reserved.
Appears in Collections:	Číslo 5 - EEICT 2012 (2012) Číslo 5 - EEICT 2012 (2012)

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