CGI presented the poster “Calculating and Communicating Error Estimates for Pathogenic Variant Classifications in Germline Sequence Tests” at the Annual Meeting of the American Society of Human Genetics. The poster won the “Reviewer’s Choice Award”, meaning it was rated by the expert panel as one of the top abstracts submitted to the conference in 2020. The poster focused on CGI’s creation of a Positive Predictive Value calculator to help clinicians understand the validity of rare variant classification, as well as the creation of patient discussion frameworks to communicate that uncertainty. The calculator is being further developed in a collaboration between CGI and Statistics without Borders. View the poster here.
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