Leveraging population-scale long-read sequencing to uncover structural variants driving disease associations: Insights from the All of Us initiative

Long-read sequencing is reshaping our understanding of human genetic variation, especially for structural variants (SVs) that are difficult to resolve with short-read data. In this ASHG Digital CoLab webinar, you’ll hear new insights that are already influencing how researchers think about population-scale genomics.

Join Dr. Michael Schatz (Johns Hopkins University) as he unpacks how PacBio HiFi whole genome sequencing (WGS) is being applied across diverse populations. Drawing on insights from the All of Us initiative, he highlights how long-read WGS uncovers previously hidden variants and what that means for discovery at scale.

Register to:

Learn how HiFi whole-genome sequencing improves detection of structural variants and complex genomic regions
See how joint SNV and SV sets from long-read data can be used in large-scale association studies
Evaluate the contribution of structural variants to disease associations in GWAS and phenome-wide analyses
Understand the importance of long-read variant frequency resources in biobanks, population genetics, and clinical genomics research

SPEAKERS

Aaron Wenger, PhD

Sr. Director, Product Marketing, PacBio

Michael Schatz, PhD

Bloomberg Distinguished Professor, Computational Biology & Oncology, Johns Hopkins University