EquiSeq (Link) is an American company that was founded by scientists to apply modern methods to the identification of genetic variants causative for hereditary forms of Exertional Myopathy, primarily Muscle Integrity Myopathy (MIM, PSSM2).
Their research program has been based on combining comparative and functional genomics with whole genome sequencing (WGS), making use of modern bioinformatics and computing capabilities. Whole genome of symptomatic horses are sequenced, and candidate genes known through research on humans or other animals to be involved in muscle development, structure, or function are interrogated for potential mutations.
In this way, horses mutations were identfied in the genes MYOT, FLNC, MYOZ3, PYROXD1, and COL6A3 in horses with exertional myopathy.
To characterize the effect of candidate variants, EquiSeq’s research then focuses on assessing the impact of the mutation at the biochemical and biological levels. This includes classical experiments such as yeast complementation models (PYROXD1 mutation), fibroblast assays (COL6A3), and the analysis of animal models (MYOT, FLNC, MYOZ3). More can be read on the EquiSeq website: www.equiseq.com.