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Evaluating the accuracy of ~7,000 automated BRCA variant classifications

Date: 12/30/2019 Duration: 01:00 Presented by: Jennifer Poitras, PhD

Caring for patients is now 99% information and 1% intervention.

To keep pace with the latest findings emerging from thousands of publications daily, clinicians are turning to automation solutions for variant interpretation and reporting. But how accurate are automated pathogenicity and actionability classifications?

Join us for a 60-minute webinar investigating the accuracy of QIAGEN Clinical Insight (QCI®) Interpret, a precision medicine platform that automatically and reproducibly computes variant classifications for any indication, germline or somatic.

In this webinar, you will:

    • Examine a case study comparing QCI’s automated variant classification to human-derived variant classifications from expert panels (the ENIGMA consortium and ClinGen*);
    • Develop a clear understanding of QCI’s variant assessment process, with particular focus on the automation of professional guidelines (ACMG/AMP, AMP/ASCO/CAP, etc.);
    • Differentiate between transparent and “black box” variant interpretation and reporting solutions;
    • Explore how clinicians can incorporate both automation and manual solutions to ensure fast turnaround times with uncompromising accuracy and detail.


Jennifer Poitras, Ph.D.
Principal Genome Scientist
QIAGEN Bioinformatics

Jennifer received a B.S. in Genetics from the University of Connecticut and went on to receive a Ph.D. in Human Genetics at the Johns Hopkins School of Medicine. During her graduate training, she used Ingenuity Pathway Analysis and was so impressed with the tool that she approached QIAGEN for the opportunity to support their bioinformatics portfolio. Currently, she is the lead genome scientist supporting QIAGEN’s software solutions for analysis and interpretation of variants implicated in hereditary disease.