Fritz Sedlazeck教授的学术报告

Fritz J. Sedlazeck, Ph.D., is an Associate Professor at the Human Genome Sequencing Center at Baylor College of Medicine and an Adjunct Associate Professor at Rice University. His research focuses on developing computational methods to characterize complex genetic variation and difficult-to-resolve regions of the human genome, with an emphasis on their contributions to human health and disease. His group develops scalable approaches for analyzing long-read sequencing data, including structural variants, tandem repeats, somatic mosaicism, DNA methylation, and transcript variation. Through large-scale population studies and collaborative research initiatives, his work aims to advance comprehensive genomic analysis and improve our understanding of genetic diversity and disease mechanisms.

Advances in long-read sequencing are transforming our ability to characterize complex regions of the human genome and understand their contributions to human disease. In this talk, I will highlight how these technologies enable comprehensive genomic analyses across biological scales, from populations to individual cell types. First, I will discuss our analysis of nearly 1,500 Hispanic and Latino participants from the All of Us Research Program, revealing previously undercharacterized structural variants, tandem repeats, and DNA methylation patterns and their associations with human disease. I will then introduce SniffCell, a computational approach that leverages native DNA methylation signals to identify the cellular origins of genetic variants directly from bulk long-read sequencing. By enabling cell-type-specific variant analysis at population scale, SniffCell opens new opportunities to investigate somatic mosaicism across individuals and tissues. Together, these studies demonstrate how long-read sequencing is expanding our understanding of human genetic diversity and disease mechanisms.