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.
Speaker:
Tanner Hagelstrom, PhD
Illumina
Speakers:
Shimul Chowdhury, PhD
Rady Children’s Institute for Genomic Medicine
Andrew Gross, PhD
Illumina
Speaker:
Mike Eberle, PhD
Illumina
Speakers:
Eric Rush, MD
University of Kansas
Tanner Hagelstrom, PhD
Illumina
Your email address is never shared with third parties.