The 2019 Curating the Clinical Genome Conference was a remarkable event this year. A record number of attendees gathered to learn, to network, and most importantly, to share genomic and phenotypic data between clinicians, researchers, and patients.
We want to thank all of the speakers, poster presenters, awardees, other attendees, Board and Committee members, staff members, exhibitors, and other participants who helped make this another outstanding and successful year for ClinGen and DECIPHER.
Our own Jennifer Poitras, Prinicpal Genome Scientist at QIAGEN, presented a study entitled, “Confidence that Scales: Accuracy of Automated Variant Classification Based on Expert-Derived Guidelines – An Evaluation of Concordance Across >6,000 samples.”
In her talk, Jennifer brought to light the how the compendium of putatively disease causing variants is expanding. This makes the gathering of the most current and accurate information critical to computing variant classifications. Jennifer highlighted the QIAGEN Knowledge Base and demonstrated how the database pulls variant specific publications, including functional studies and clinical cases. QIAGEN Clinical Insight (QCI) leverages this information to invoke all ACMG rules to automatically compute variant classifications. In this webinar, you will see how QCI classifies over 6,000 ClinVar expert panel assessed BRCA1 and BRCA2 variants with incredible accuracy. With respect to clinical actionability, QCI automated ACMG classification was 99.6% concordant with ENIGMA expert panel variant assessments. This level of accuracy speaks to the quality of the clinical, functional, and population level data in the knowledge base, as well as the robustness of the underlying algorithm used to apply the ACMG guidelines
To learn more about QIAGEN’s bioinformatics solutions contact our experts at [email protected]
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