Genetics, Biomedical Computing and Genomics Monthly Seminar

Emerging Genetic Drivers of Human Diseases: A genome-wide spectrum of tandem repeat expansions in 338,963 humans

In this talk, Dr. Li will present an extremely exciting new research direction: the Tandem Repeat Genome Aggregation Database (UCI TR-gnomAD; Cell 2024). This groundbreaking project has positioned UCI as a leader in human and medical genetics. TR-gnomAD provides the first genetic reference maps for approximately 0.8 million Tandem Repeat (TR) expansions, such as the CAG expansion in Huntington’s disease, across 340,000 humans. It revolutionizes TR-based disease-association studies, health disparity research, and clinical diagnostics. The international research and medical communities, including scientists, physicians, and genetic counselors, will heavily rely on TR-gnomAD for interpreting TR expansions in genetic diseases,