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Sequencing Structural Variants for Disease Gene Discovery and Population Genetics

Thursday, March 8, 2018

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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.
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

This webcast has been produced on behalf of the sponsor who retains sole responsibility for content. About this content.

Alexander Hoischen Ph.D.
Assistant Professor, Department of Human Genetics
Radboud University Medical Center
View Biography
Aaron Wenger Ph.D.
Principal Scientist
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Dr. Jayshan Carpen
Nature Research
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