Clinical exome sequencing (CES) is increasingly being adopted by small and mid-sized laboratories to diagnose genetic diseases, aid treatment decisions, and provide prognostic information. However, the exponential increase in genetic data generated from exome and genome panels poses significant workflow challenges. The ability to prioritize potentially pathogenic variants from large datasets and identify the few candidate variants becomes more difficult. This issue is further amplified in cases where labs must use deep phenotyping of patients and compare that to reference genotype-phenotype knowledge associated with each candidate variant. To overcome these challenges, labs are beginning to implement Artificial Intelligence (AI) in their variant analysis, interpretation and reporting workflows.

Join us for our 2023 Clinical Hereditary Disease Diagnostics Summit, a free-to-attend, two-part event exploring the opportunities and limitations of AI in hereditary disease diagnostics. Designed to help clinical diagnostic labs learn how to safely apply AI to exome and genome sequencing workflows, the content-rich event will feature invited lectures from lab directors and clinical geneticists, thought-provoking discussions on the future of hereditary disease diagnostics, as well as educational presentations on the latest databases and AI-powered software for germline secondary and tertiary analysis.

Part I: Educational talks – October 12, 2023

An education session exploring the latest databases, software, and services for germline secondary and tertiary NGS analysis. Topics will include: 

  • How labs can achieve clinical exome completeness with AI-enriched and manually curated content
  • How labs can apply enhanced phenotype-driven ranking in clinical cases
  • How labs can safely use a “smart” approach to AI to reach the best possible chance of reaching a diagnosis
About the speaker
Neha Jalan, Ph.D., Professional Services Solutions Manager
QIAGEN Digital Insights
Neha Jalan is a Professional Services Solutions Manager at QIAGEN Digital Insights in North America. Neha has spent over a decade working in genomics, bioinformatics and microbiology; while interacting with scientists and providing solutions for their research concerns. Prior to joining QIAGEN, Neha gained her experience at Eurofins Scientific and Altria. Dr. Jalan earned her Ph.D. In microbiology and cell science from the University of Florida and MSc in microbiology from University of Mumbai.
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.
Araceli Cuellar, Ph.D., Field Application Scientist
QIAGEN Digital Insights
Araceli joined QIAGEN in 2020 and serves as one of our outstanding Field Applications Scientists. Araceli received a Ph.D. in integrative pathobiology from the University of California Davis, where she also completed her postdoctoral training in pediatric rare diseases. Prior to joining QIAGEN, she managed a molecular genetics lab that focused on identifying and analyzing genetic variants associated with a rare pediatric skull condition.
Date of recording:Thursday, October 12, 2023
Duration:120 minutes
Human Genetics
Bioinformatics - Clinical Interpretation and Reporting
Informatics & Data