Over the past two decades, huge advancements in sequencing technology have transformed our understanding of human genetics, leading to faster diagnoses, earlier prevention, and better treatments. But as more and more people have their genomes sequenced, outpacing our ability to analyze and interpret the generated data, we must embrace new tools, technologies, and strategies to realize the full value of genomic innovation.

You’re invited to take a seat at the forefront of germline analytics, as part of the Hereditary NGS Clinical Summit Series, a two-part, free-to-attend virtual event for variant scientists, bioinformaticians, clinical geneticists, and lab managers. 

Part I: Thursday, October 13, 2022 

An informative scientific and clinical segment focusing on how to streamline and scale components of the NGS analytical workflow.

Attendees will learn:

  • How to simplify NGS secondary analysis workflows to 5 steps
  • How to solve every hereditary disorder case for all types of mutations
  • How to address current challenges in germline and exome analytics 

Part II: Thursday, November 10, 2022

An expert panel of leading medical geneticists, variant scientists and bioinformaticians will discuss emerging scientific and clinical trends in germline NGS testing.

Attendees will gain:

  • Insight into how leading laboratories address bottlenecks in their NGS data pipelines
  • Tips on how to solve process inefficiencies of critical workflow components, including variant curation and interpreting rare or novel variants
  • An outlook on how germline NGS analysis and interpretation will change in the next 5 years and how to remain at the forefront of innovation

Plus, all attendees receive a complimentary trial of HGMD Professional, the largest, manually curated resource for finding disease-causing mutations, and complimentary demonstrations of QCI Secondary Analysis and QCI Interpret, NGS variant analysis, interpretation and reporting software.

About the speaker
Michael Furness, Professional Customer Solutions Manager
QIAGEN Digital Insights
Mike Furness is Professional Customer Solutions Manager at QIAGEN Digital Insights EMEA, and has spent over 30 years working in genomics and bioinformatics, developing and applying new technologies to understanding disease, drug R&D and clinical diagnostics. He has previously worked for Life Technologies, Cancer Research UK, Pfizer, Incyte Genomics, DNAnexus, Congenica, and Lifebit, and was the Founder of TheFirstNuomics.
Dr. Tim Bonnert, Field Application Scientist
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.
Ruth Burton, Clinical Application Specialist
QIAGEN Digital Insights
My career has always had a strong focus on genetics starting with my PhD project and post-doctoral work at Warwick University. While I enjoyed research and focusing on a single project I also liked interacting with scientists of different disciplines, problem solving and discovering the best technical approach to solve a research question. At QIAGEN I am able to combine these interests. My job as a Clinical Application Specialist means I am responsible for supporting the clinical informatics product portfolio, helping scientists and clinicians choose the best software solutions for their application. A key area of my job is to provide technical training and support with a particular focus on clinical applications. I have always found clinical genetics a fascinating area to work in and prior to QIAGEN, I was a Product Manager at Oxford Gene Technology (OGT). I worked for 5 years developing the CytoSure range of microarrays and the microarray analysis software CytoSure Interpret which complemented OGT’s array portfolio for constitutional disorders, cancer cytogenetics, in-vitro diagnosis and molecular cytogenetics. I was also involved in developing OGT’s clinical next generation sequencing (NGS) products, software and services.I have always liked the challenges technical support and before joining OGT I worked for 8 years at Agilent Technologies as a Senior Application Specialist working with Agilent’s Life Science products. I provided technical support and training on software, NGS and microarray product lines and liked the combination of working both at the bench and carrying out data analysis. I have always found it is important to understand the complete workflow from sample preparation through to data analysis when trying to troubleshoot a technical problem. It is the broad range of applications that you come across which makes the role of an Application Specialist both interesting and challenging. I also like it that no two days are ever the same!
Georgios Stamoulis, Director of Global Product Management
QIAGEN Digital Insights
Georgios Stamoulis holds the position of QIAGEN Digital Insights Director of Global Product Management for Hereditary diseases. Dr. Georgios Stamoulis is a Molecular Geneticist by training and he holds a PhD in Human Genetics from the University of Geneva, and an MSc in Medical Genetics from 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. 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 of Human Genetics (ESHG). He is also an author of multiple human genomics publications.
Date of recording:Thursday, 13 October 2022
Duration:120 minutes
Human Genetics
Informatics & Data