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Western Bioinformatics Research Seminar Series
In person Room#: MSB-105
Zoom link: https://westernuniversity.zoom.us/j/91328965656
Presentation Title:
Publishing Functionally-Validated Sequence Variants at Scale in the ClinVar Database at the US National Institutes of Health: Our Experience
Speaker Name: Peter K. Rogan, Ph.D
- Professor Emeritus (Biochemistry)
- Former Canada Research Chair in Genome Bioinformatics
- Schulich School of Medicine and Dentistry
- University of Western Ontario
- President, CytoGnomix Inc.
Learning objectives:
- Introduce ClinVar and it's role in interpreting gene variants from next generation genome sequencing of patients with clinical diagnoses.
- Learn about a new type of submission of variants with functional data supporting a pathological role.
- Unforeseen challenges in submitting a peer-reviewed, large database of mRNA splicing mutations to ClinVar.
- Integrate evidence based functional data with ACMG/AMP criteria for variant pathogenicity from previous submissions and implications.