a new methodology to associate snps with human diseases according to their pathway related context新方法将单核苷酸多态性与人类疾病根据其通路相关的上下文.pdfVIP

A New Methodology to Associate SNPs with Human Diseases According to Their Pathway Related Context Burcu Bakir-Gungor1,2*, Osman Ugur Sezerman1 - _ 1 Biological Sciences and Bioengineering, Faculty of Engineering, Sabancı University, stanbul, Turkey, 2 Department of Genetics Bioinformatics, Department of Computer I - - _ Engineering, Faculty of Engineering, Bahc¸es¸ehir University, Istanbul, Turkey - Abstract Genome-wide association studies (GWAS) with hundreds of z_thousands of single nucleotide polymorphisms (SNPs) are popular strategies to reveal the genetic basis of human complex diseases. Despite many successes of GWAS, it is well recognized that new analytical approaches have to be integrated to achieve their full potential. Starting with a list of SNPs, found to be associated with disease in GWAS, here we propose a novel methodology to devise functionally important KEGG pathways through the identification of genes within these pathways, where these genes are obtained from SNP analysis. Our methodology is based on functionalization of important SNPs to identify effected genes and disease related pathways. We have tested our methodology on WTCCC Rheumatoid Arthritis (RA) dataset and identified: i) previously known RA related KEGG pathways (e.g., Toll-like receptor signa