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Explore the complex world of tandem repeats in human genomics through this 29-minute webinar presented by Dr. Fritz Sedlazeck from Baylor College of Medicine. Discover why tandem repeats, despite being challenging to analyze, represent crucial regions of the human genome with approximately 200 pathogenic and phenotypic variants that are frequently overlooked in standard genomic analyses. Learn about their significant applications in both medical genetics and forensic investigations, including crime scene analysis.
Delve into comprehensive research characterizing 1.7 million tandem repeat regions across the entire human genome using unsupervised machine learning techniques. Understand how this approach reveals interesting clustering patterns and characteristics with important implications for gene regulation and medical applications. Examine the development of novel GIAB (Genome in a Bottle) benchmarks and comparison methods that enable large-scale comparisons across different sequencing technologies and samples for the first time.
Gain insights into cutting-edge tandem repeat calling methods that simultaneously identify genetic variations and epigenetic changes in tandem repeats using PacBio long-read sequencing data. Explore how these computational advances are transforming the field of human genomics and genetics by enabling routine assessment of both benign and pathogenic tandem repeats. The presentation demonstrates practical applications for improving our understanding of how these complex genomic elements evolve, impact phenotypes, and contribute to human disease and traits.
