Signosis is proud to have supported the National Institute of Health in their study of identifying functional variants at disease-associated loci using, Firefly Luciferase Lysis Buffer 5x, and Firefly Luciferase Substrate. As highlighted in the study, luciferase assays are an invaluable tool for identifying and characterizing functional variants, allowing investigations of gene expression, intracellular signaling, transcription factors, receptor activity, and protein folding. With our high-quality products and reliable support, Signosis is committed to empowering researchers in their efforts to advance scientific discovery and improve human health.
Using Luciferase Reporter Assays to Identify Functional Variants at Disease-Associated Loci
Anup K Nair 1, Leslie J Baier 2
Abstract The genomic era, highlighted by large scale, genome-wide association studies (GWAS) for both common and rare diseases, have identified hundreds of disease-associated variants. However, most of these variants are not disease causing, but instead only provide information about a potential proximal functional variant through linkage disequilibrium. It is critical that these functional variants be identified, so that their role in disease risk can be ascertained. Luciferase assays are an invaluable tool for identifying and characterizing functional variants, allowing investigations of gene expression, intracellular signaling, transcription factors, receptor activity, and protein folding. In this chapter, we provide an overview of the different ways that luciferase assays can be used to validate functionality of a variant.