Genome wide association studies (GWAS) are identifying more loci associated with complex disorders. However, the loci cover broad stretches of the genome with many variants, and progress toward understanding disease mechanisms has been limited because of the inherent difficulty of identifying the functional variants within the loci. In this study, I will present a technology called Massively Parallel Reporter Assay (MPRA) and how we can use this technology for identifying functional genetic variants in regulatory regions such as enhancer, promoter or 3’-untranslated regions (3’UTR). We have also developed an innovative statistical method, we called it MGExA (MPRA-mediated Gene Expression Association Analysis), that combines the results from GWAS with MPRA for identifying causal genes that potentially contribute to a specific trait. As more MPRA and GWAS datasets continue to be generated, we believe that MGExA will be an important tool to identify potential causal mechanisms in complex diseases, especially those where traditional genetic approaches have yet to provide plausible hypotheses.
Dr. Yunlong Liu is T.K. Li Chair for Medical Research and Professor of Medical and Molecular Genetics, Biostatistics, BioHealth Informatics at the Indiana University School of Medicine. He serves as the director of the Center for Computational Biology and Bioinformatics, a research center with 22 full time faculty members, and the Center for Medical Genomics, an Indiana CTSI-designated core for high-throughput sequencing, single-cell analytics, and genotyping services. Specific research areas include developing computational algorithms and high-throughput genomics experimental approaches in studying functions of genetic variants in complex diseases, designing methodologies on next generation sequencing and single-cell analytics, and understanding regulatory mechanisms and translational impact of alternative splicing in a variety of disease systems, including cancer, diabetes, neurological diseases, and addiction.
Bioinformatics Event: “Roles of Regulatory Variants in Complex Disease”
Date & Time: Thursday, January 20, 2022, 12 noon to 1 pm
Meeting ID: 916 4894 2759 Passcode: BIOM646