EVENT: Interpretation of Rare and Inherited Disease – June 22
May 26, 2016
The Intellectual and Developmental Disabilities Research Center, is pleased to organize this symposium featuring the landscape of genetics research at Washington University.
This half-day event includes presentations from a number of WU faculty experts in the field – including GPS Medical Director, Catherine Cottrell – and includes discussion around the challenges and opportunities in variant interpretation across multiple disciplines within the university.
There is no charge for this event, which includes a reception of refreshments and hors d’oeuvres. Please register for this event at http://iddrc.wustl.edu/genes to enable an accurate count for accommodations.
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, 1:00 – 6:30 PM in Connor Auditorium (FLTC)
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
2:50 Interactive Panel Discussion
3:10 Session 2
5:15 Reception (refreshments and hors d’oeuvres) in FLTC 2nd Floor Hearth
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