SwitchGear Genomics’ LightSwitch Luciferase Assay System Identifies Functional Sequence Variants Associated with Disease

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LightSwitch Luciferase Assay System enables researchers to measure the function of hundreds of sequence variants in 3’UTRs and promoters as described in a recent publication

SwitchGear Genomics, a leading provider of products for studying the regulatory elements in the human genome, today announced the application of its GoClone luciferase reporter products in identifying functional sequence variants that map to expression quantitative trait loci (eQTLs) in a PLoS Genetics article “Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue.”

Expression quantitative trait loci (eQTLs) are genomic regions associated with changes in gene expression and are important in understanding the potential link between genetic variants and disease. The researchers in this study sought to identify eQTLs associated with variation in gene expression in human liver tissue.

Their findings revealed that eQTL associations were enriched near proximal promoters and 3′ UTRs. Many of the eQTLs were mapped to a potential causative variant or haplotype, a number of which were functionally validated using SwitchGear’s LightSwitch Luciferase Assay System.

“Our custom variant analysis service using our unique promoter and 3’UTR luciferase reporters helped to establish a functional link between genomic sequence variants and their effect on gene expression,” said Nathan Trinklein, CEO and co-founder of SwitchGear Genomics. “Mapping eQTLs associated with expression variation and functionally validating the causative SNPs is an important process for understanding the association between SNPs and disease.”

About SwitchGear Genomics, Inc.:

SwitchGear Genomics Inc. is a leading provider of products for studying the regulatory elements in the human genome. The company has developed a comprehensive approach to generate new insights into gene regulatory networks and allow researchers to efficiently screen entire pathways in living cells. SwitchGear was founded in March 2005 by Dr. Richard Myers, Dr. Nathan Trinklein and Dr. Shelley Force Aldred from Stanford University. For more information about SwitchGear, please visit the company's website at http://www.switchgeargenomics.com

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Nathan Trinklein, Ph.D.
SwitchGear Genomics
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