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
Date of recording:Thursday, November 10, 2022
Duration:90 minutes
Human Genetics
Informatics & Data