Researchers continue to discover genes that are associated with disease. A remaining question is why genetic variations are so unevenly distributed within the human genome. Some parts of the genome are more susceptible to structural variants (SVs), while others tend to have single nucleotide variants.

Professor Peter Kang (Neurology; MSI PI) and Dr. Christine Buels (Neurology) are working on a project, “Foundations of Structural Variation in the Human Genome,” that uses nanopore long-read sequencing to discover why SVs occur in specific regions. They are also examining the accuracy of breakpoints identified on current clinical genetic testing platforms. The project focuses on variations associated with neurogenic and neuromuscular diseases, such as Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and spinal muscular atrophy.

This project recently received a UMII Seed Grant. UMII Seed Grant funds are intended to promote, catalyze, accelerate and advance UMN-based informatics research in areas related to the MnDRIVE initiative, so that UMN faculty and staff are well prepared to compete for longer term external funding opportunities. 

This Seed Grant falls under the Discoveries and Treatments for Brain Conditions research area of the MnDRIVE initiative.

Research Computing partners:

• University of Minnesota Informatics Institute
• Minnesota Supercomputing Institute