February 5, 2021  |  Webinar

Webinar: Sequencing structural variants for disease gene discovery and population genetics

Structural variants (SVs, differences >50 base pairs) account for most of the base pairs that differ between two human genomes, and are known to cause over 1,000 genetic disorders including ALS, schizophrenia, and hereditary cancer. Yet, SVs remain overlooked in human genetic research studies due to the limited power of short-read sequencing methods (exome and whole genome sequencing) to resolve large variants, which often involve repetitive DNA. Recent advances in long-read sequencing have made it possible to detect the over 20,000 SVs that are now known to exist in a human genome. Corresponding advances in long-read SV calling algorithms have reduced coverage requirements, making long-read genome sequencing a cost-effective approach for both disease research and population genetics studies. Learn how human geneticists are adding low-coverage, long-read whole genome sequencing to their study designs to fully power genetic variant discovery and ultimately identify disease-causing variants and genes.

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