Interpretation of Genetic Variants in Rare and Inherited Disease

A Cross-Disciplinary Symposium on the State of Science, Technology, and Capacity at Washington University in St. Louis

Wednesday, June 22nd 1 PM to 6:30 PM
Connor Auditorium - Farrell Learning and Teaching Center

Join us for presentations from campus leaders and an afternoon of discussion regarding the science of genomic variant interpretation and new opportunity for interdisciplinary collaboration at WUSTL.

Featured Speakers

Marwan Shinawi: The Role of Clinician Input in Variant Interpretation
F. Sessions Cole: The Value of the Pediatrics Genomics Board and Inter-institutional Data Sharing
Don Conrad: Novel Bioinformatics Approaches to Variant Interpretation
Cathy Cottrell: The GPS Experience in Interpreting "n of 1” Variants in Clinical Disease Sequencing
Christina Gurnett: Scientific Tradeoffs between Clinical and Research Genomic Sequencing
Ira Hall: Putting Variants in Context: Large-scale Genome Sequencing Projects at WUSTL
Shondra Miller: Functional Genomic Validation of Disease-Associated Mutants
Josh Rubin: Disease-Specific Limitations and Cross-Disciplinary Opportunity in Variant Interpretation
Dustin Baldridge: Improving Inventories of Variants, Patients, and Biomaterials at WUSTL


1:00 Session 1
2:40 Break/Refreshments
2:50 Interactive Panel Discussion
3:10 Session 2
5:15 Reception (refreshments and hors d’oeuvres) in FLTC 2nd Floor Hearth

This event is free. Your registration will help us estimate adequate seating and food. Sponsored by the IDDRC at Washington University Medical School. Contact:

Registration Closed

Registration for this event is now closed as the event venue is at capacity. If you are interested in attending, please contact IDDRC program manager Daniel Gray via e-mail, and we will notify you if we can accommodate your request.

Click the Image to download a PDF of the flyer.