Digital CoLab with PacificBiosciences

Long-read sequencing is enabling a more complete view of human genetic variation, particularly for structural variants (SVs) that are difficult to resolve with short-read data. This webinar will present insights from the All of Us initiative, including analyses from a diverse cohort sequenced with PacBio HiFi whole genome sequencing (WGS). Speakers will explore how population-scale long-read WGS expands SV discovery in human biobanks, enabling novel disease associations, and informing research in other populations. Challenges and opportunities specific to long reads, including variant calling, frequency annotation, and interpretation at a population-scale will be discussed.

Learning objectives: 

• Describe how long-read whole-genome sequencing improves detection of structural variants and complex genomic regions.
• Explain 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, eQTL, and phenome-wide analyses.
• Discuss the importance of long-read variant frequency resources for variant filtering and interpretation in biobanks, population genetics, or clinical genomics research.
• Identify key analytical considerations for population-scale long-read variant calling, including coverage, variant calling, and quality control.

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