Speaker: Wei Li，Ph.D., Grace B. Bell Endowed Chair and Professor of

Bioinformatics, University of California, Irvine

Time: 10:00-11:00 a.m., July 24, 2024, GMT+8

Venue: Room B117, Research Complex #2, PKU

Abstract: 

Tandem Repeat (TR) variations are underutilized in medical diagnostics despite their potential impact on human traits and diseases. We recently developed the Tandem Repeat Genome Aggregation Database (TR-gnomAD; Cell 2024), which includes data on 0. 86 million TRs from 338, 963 diverse individuals. Utilizing TR-gnomAD as a control, our analysis of approximately 3, 000 undiagnosed patients has identified several TR variants potentially linked to disease phenotypes. Additionally, our work on alternative polyadenylation (APA) has uncovered numerous APA-linked risk genes for complex diseases. Our advances in DNA methylation analysis have also led to multiple US patents and the development of a liquid biopsy technique for early detection of liver cancer, which is nearing FDA approval.

Source: Biomedical Pioneering Innovation Center, PKU