Part 1: AI-Powered Hereditary Disease Diagnostics: Closing the Gap in Clinical Exome Completeness (Europe, Africa, Asia & Australia)

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

Leif Schauser, Ph.D., Director Product Management Genome Analysis, Bioinformatics

QIAGEN

Leif Schauser holds a Ph.D. in plant molecular genetics from Aarhus University, Denmark. He completed his postdoctoral training in Norwich, UK, before working as a professor in bioinformatics at Aarhus University. In 2013, Schauser joined CLC bio, just before its acquisition by QIAGEN. During his time at QIAGEN, Schauser has worked with many aspects of bioinformatics, ranging from microbial genomics and metagenomics to biomedical applications.

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.

Dr. Ruth Burton, 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.

Tim Bonnert, Ph.D., Director, EMEA Field Application Scientists

QIAGEN Digital Insights

Dr. Tim Bonnert heads the Field Application Scientist team for QIAGEN Digital Insights in EMEA and APEC, providing scientific support and training to customers implementing QIAGEN’s secondary analysis and tertiary interpretation solutions. He is based in the UK and joined QIAGEN in 2011. He received his Ph.D. from University of Cambridge and has over 12 years of pharmaceutical research experience in molecular biology, bioinformatics, and biomarker discovery using a range of molecular profiling techniques.