3/8 Webinar: Sequencing SVs for Disease Gene Discovery & Population Genetics

[pacbio]

Join us to 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.

During this webcast you will learn about:

• Methods for calling and visualizing structural variants from low-coverage, long-read sequencing of human genomes
• Optimal study designs to fully power SV detection for gene discovery in rare and Mendelian diseases
• Cost-effective population genetics study designs for common SV reporting down to < 1% allele frequency
• Case studies demonstrating genetic discovery in rare Mendelian disease subjects

Speakers:

Alexander Hoischen Ph.D., Radboud University Medical Center
Aaron Wenger Ph.D., Principal Scientist, PacBio

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