The Genomic Insights in Rare Disease Webinar Series

Interrogation of the genome in the search of a diagnosis for rare disease continues to yield new insights and new discoveries.  There are exciting advances being made in how the genome can inform underlying causes of disease; from advances in recognizing structural variation, to using machine-learning to predict protein coding errors, to implementing screening for repeat disorders, whole genome sequencing is enabling unequaled analysis in the search of a molecular etiology.

Listen as top experts in the field share how their work is impacting the ability to find an answer in rare disease.

Validating Short Tandem Repeats by Genome Sequencing in the Illumina Clinical Services Lab

Speaker:
Tanner Hagelstrom, PhD
Illumina

Detecting Copy Number Variants and Structural Variants from WGS—Are These Problems Solved?

Speakers:
Shimul Chowdhury, PhD 
Rady Children’s Institute for Genomic Medicine
Andrew Gross, PhD
Illumina

Are Detection of Repeat Disorders and Spinal Muscular Atrophy from WGS Ready for the Clinic?

Speaker:
Mike Eberle, PhD
Illumina

Are All Genome Results Cut from the Same Cloth? Uncovering More with the “Fully Featured” Genome

Speakers:
Eric Rush, MD
University of Kansas
Tanner Hagelstrom, PhD
Illumina