Although there have been remarkable improvements in genomics, interpreting NGS data for hereditary diseases remains difficult. The field is constantly changing, and numerous new articles on human genetic variants are added to PubMed each week. For genetic testing labs, overlooking even a single article among millions can make a significant difference between an inconclusive result and a diagnosis.

In this webinar, we will demonstrate how QCI Interpret can improve your diagnostic yield for hereditary disorders. QCI Interpret is a clinical decision support platform that leverages augmented molecular intelligence to streamline the interpretation workflow. It uses the most extensive, globally trusted and manually curated molecular knowledge and bibliography evidence to provide you with the best possible opportunity to solve every case. By demonstrating the different features and series of use-cases, we will show you how QCI Interpret guarantees a comprehensive and thorough investigation of every case for all types of genetic variation, including copy number variants (CNVs). This will allow you to provide precise answers to patients and their families, while also reducing test turnaround time from hours to minutes.

Learning objectives:

  • Learn about QCI Interpret’s analysis and interpretation workflow for hereditary diseases using targeted and extended gene panels, including WES/WGS
  • Learn about QCI Interpret and QIAGEN’s expert curation process based on the latest ACMG carrier screening guidelines 
  • View demonstrations of unique features in QCI Interpret, including how to input symptoms relevant to a case and receive relationships to candidate diseases and mutated genes using the Phenotype Network Analysis feature and triage mode of variant assessment.
  • Learn how QCI Interpret supports CNV interpretation and reporting with bibliographic coverage of over 60,000 CNV case reports"
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. Dr. Stamoulis 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 ofexperience in human genetics and genomic diagnostics & research and in product management of hereditary disease products with a focus on NGS interpretation tools. Before joining QIAGEN, Georgios served as the Global Product Manager of Hereditary Diseases in SOPHiA Genetics.In 2016, he received the “Fellowship of Excellence for Young Investigators” from the European Society ofHuman Genetics (ESHG). He is also an author ofmultiple human genomics publications.
Date of recording:Wednesday, April 19, 2023
Duration:60 minutes
Informatics & Data