Academic Journals Database
Disseminating quality controlled scientific knowledge

Evaluating the accuracy of a functional SNP annotation system

ADD TO MY LIST
 
Author(s): Shen Terry | Carlson Christopher | Tarczy-Hornoch Peter

Journal: BMC Bioinformatics
ISSN 1471-2105

Volume: 10;
Issue: Suppl 9;
Start page: S11;
Date: 2009;
VIEW PDF   PDF DOWNLOAD PDF   Download PDF Original page

ABSTRACT
Abstract Many common and chronic diseases are influenced at some level by genetic variation. Research done in population genetics, specifically in the area of single nucleotide polymorphisms (SNPs) is critical to understanding human genetic variation. A key element in assessing role of a given SNP is determining if the variation is likely to result in change in function. The SNP Integration Tool (SNPit) is a comprehensive tool that integrates diverse, existing predictors of SNP functionality, providing the user with information for improved association study analysis. To evaluate the SNPit system, we developed an alternative gold standard to measure accuracy using sensitivity and specificity. The results of our evaluation demonstrated that our alternative gold standard produced encouraging results.

Tango Jona
Tangokurs Rapperswil-Jona

     Save time & money - Smart Internet Solutions