title: METU-SNP: an integrated software system for SNP-complex disease association analysis.
abstract: Recently, there has been increasing research to discover genomic biomarkers, haplotypes, and potentially other variables that together contribute to the development of diseases. Single Nucleotide Polymorphisms (SNPs) are the most common form of genomic variations and they can represent an individual&rsquo;s genetic variability in greatest detail. Genome-wide association studies (GWAS) of SNPs, high-dimensional case-control studies, are among the most promising approaches for identifying disease causing variants. METU-SNP software is a Java based integrated desktop application specifically designed for the prioritization of SNP biomarkers and the discovery of genes and pathways related to diseases via analysis of the GWAS case-control data. Outputs of METU-SNP can easily be utilized for the downstream biomarkers research to allow the prediction and the diagnosis of diseases and other personalized medical approaches. Here, we introduce and describe the system functionality and architecture of the METU-SNP. We believe that the METU-SNP will help researchers with the reliable identification of SNPs that are involved in the etiology of complex diseases, ultimately supporting the development of personalized medicine approaches and targeted drug discoveries.
authors.affiliation: METU, Informatics Institute, Department of Information Systems, 06531 Ankara, Turkey. gurkan.ustunkar@gennovate.com
authors.forename: Gürkan
authors.initials: G
authors.lastname: Ustünkar
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydın Son
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D012984:Software