In its latest release, QCI Interpret for Hereditary extends its market-leading content with further advancements in Artificial Intelligence (AI) for enhanced capabilities in clinical exome NGS testing. Now, with the addition of AI-derived literature references for rare disease genes, QCI Interpret provides complete exome coverage, on top of the existing unrivalled manually curated content and bibliography. 

In this webinar, we will demonstrate how QCI Interpret is expanding its literature coverage enabling easy and efficient variant filtering workflow, based on bibliography and on patient’s phenotype. This new feature provides greater control over bibliography context, allowing users to only look at publications where the causative variant is associated with a specific disease. In addition, the release provides AI-enhanced phenotype-driven ranking. Using this approach that has been trained using thousands of solved cases, QCI Interpret for Hereditary Diseases provides superior overall candidate ranking for causative variants in rare diseases. The new variant-ranking approach is enhanced by taking into account additional variant related variables supported also by AI, as well as the patient’s symptoms, and all of the manually curated literature in the QIAGEN Knowledge Base to give the best possible chance of reaching an accurate diagnosis.

Learning objectives:

  • Learn about QCI Interpret’ s new AI bibliography content providing expanded clinical exome coverage, due to the combination of the AI-derived literature references with QIAGEN’s unrivalled manual curation. 
  • Learn about QCI Interpret gives users the best possible chance of reaching an accurate diagnosis by providing phenotype-driven ranking that considers the detected mutations, the patient’s symptoms, and all the content in the QIAGEN Knowledge Base.
  • View live demonstration of unique features in QCI Interpret, which can drastically reduce the time spent on solving a case, resulting in faster turnaround time and an accurate assessment of a case.
About the speaker
Georgios Stamoulis, Ph.D., Director, Global Product Management - Hereditary Diseases
QIAGEN Digital Insights
Dr. Georgios Stamoulis is the Director of Global Product Management for Hereditary Diseases at QIAGEN Digital Insights. He is a molecular geneticist by training and holds a Ph.D. in human genetics from the University of Geneva, and an MSc in medical genetics from the University of Glasgow. Georgios has more than 12 years of experience in human genetics and genomic diagnostics & research and in product management of hereditary disease products with a focus on NGS interpretation tools.
Date of recording:Thursday, October 19, 2023
Duration:60 minutes
Human Genetics
Bioinformatics - Clinical Interpretation and Reporting
Informatics & Data