Details
This webinar explored interpretation and reporting of complex variants identified through clinical WGS-based cardiogenetic testing. We presented the results of three cases from the CardioSeq clinical trial that reflect the diversity of genetic findings encountered in an adult cardiology clinic, spanning single-nucleotide variants, short tandem repeat expansions, and mosaic structural variants. These cases highlight the clinical complexity, diagnostic significance, and counseling considerations associated with complex genomic variation while demonstrating the clinical relevance of a comprehensive, WGS-based approach to genetic testing for cardiovascular disease.
Explore more case reviews from our Grand Rounds in Genomics Medicine sessions here.
Speaker
Josh Lowry, PhD
Sr. Clinical Genomic Scientist
Illumina
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- Date & Time
- Mar 26, 2026
- 08:00 AM
- Presenter
- Josh Lowry, PhD