This month's seminar "Evolving guidelines for variant classification”, featuring Dr Leslie Biesecker from the National Institutes of Health in the US.
The variant classification categories used widely in today’s clinical genetic and genomic testing derived from recommendations of the American College of Medical Genetics and Genomics. The five categories are: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. The ACMG is drafting what will be the fourth iteration of guidelines for the general variant classification framework. These new guidelines will incorporate a number of recent advances including a mathematical framework, incorporating objective, quantitative assessments of evidence, and the subdividing of the VUS category.
DNA dialogue seminars are held live via zoom on the last Thursday of each month. Registration is open to anyone working in, or impacted by, medical genomics.
You can find details on upcoming DNA dialogue seminars, and all Australian Genomics events, via the Australian Genomics website: www.australiangenomics.org.au/category/events/
17 июн 2024
