Assistant Professor of Medicine, University of Pittsburgh School of Medicine
Genome wide association studies (GWAS) have provided significant insight into complex diseases by identifying numerous disease-associated non-coding single nucleotide polymorphisms (SNPs). However, GWAS cannot distinguish functional SNPs (fSNPs) from other disease-associated SNPs that are in linkage disequilibrium (LD). To address this challenge, we developed a novel approach to bridge the gap between GWAS and biological mechanisms with a set of high throughput methodologies. We use SNP-seq (Single Nucleotide Polymorphism-Sequencing) to identify disease-associated fSNPs and FREP-MS (Flanking Restriction Enhanced DNA Pulldown-Mass Spectrometry) to characterize these fSNPs by identifying regulatory proteins that specifically bind to the fSNPs. To prove the feasibility, we applied this approach to a couple of disease-associated loci. The implication of using these functional data to build a disease-associated risk gene transcriptional regulation network (TRN) is discussed.
Location: Room 101, CVM, NC State University
Time: Wednesday, March 20, 2017, 4:00pm