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Pathologist,
Moffitt Cancer Center

This webinar will discuss how Moffitt Cancer Center has implemented a new capture-based application to accurately assess myeloid malignancies by detecting complex variants in challenging genes in a single experiment.  

Molecular profiling by next-generation sequencing (NGS) of myeloid tumors has become a routine part of disease management. One of the difficulties and limitations of NGS technology has historically been the inability to reliably detect mutations in certain GC-rich gene regions (such as the CEBPA gene) and insertions/deletions in genes such as FLT3, NPM1, and CALR. 

Many labs have circumvented these limitations by performing parallel orthogonal testing, which is redundant, costly, and inefficient. Furthermore, in late 2018, the US Food and Drug Administration approved a targeted therapy for FLT3-mutated acute myeloid leukemia, making accurate and reproducible mutation detection of paramount importance for guiding treatment.

In this webinar, Dr. Mohammad Hussaini of the Moffitt Cancer Center will discuss development of a comprehensive solution that captures 98 genes noted to be of importance in myeloid disease. In particular, he will describe:     

  • The process of evaluating and implementing this new capture-based NGS solution 
  • The accurate detection of challenging genes such as FLT3, CALR, and CEBPA 
  • The global analytical performance of this solution
Sponsored by

Chief Technology Officer,
Karius

Genomics Bioinformaticist,
Amazon Web Services

The discovery of microbial cell-free DNA has propelled the introduction of new technologies that can be leveraged for next-generation diagnostic assays. Previously inaccessible genomic information can now be comprehensively surveyed for microorganisms, all from a single blood draw.

This webinar will outline how infectious disease testing firm Karius analyzes microbial cell-free DNA data through novel computational methods optimized for cloud scalability on AWS.

Sivan Bercovici of Karius will share how his team addresses the challenge of accuracy of genomic reference data, as well as the complexities that arise from the convoluted and highly homologous microbial signal. This capability offers the promise to fill gaps in current diagnostic methods, to empower physicians to more effectively detect and diagnose infectious disease, and to monitor the effectiveness of treatment.  

*This webinar will be pre-recorded.  You may submit questions for our speakers on the registration page.

Sponsored by
Tue
Dec
10
11:00 am2019
Sponsored by
Congenica II

Maximizing Diagnostic Yield with an Optimized Variant Interpretation Platform

Genome Webinar

Postdoctoral Researcher,
Royal College of Surgeons Ireland (RCSI)

This webinar will discuss the use of next-generation sequencing and an optimized variant interpretation workflow to increase diagnostic yield in complex clinical cases.

Using specific case examples as illustrations, Dr. Katherine Benson of the Royal College of Surgeons Ireland will discuss how her team has implemented an all-in-one solution for the analysis and interpretation of sequencing results in the epilepsy clinic. She will detail how this approach has increased diagnostic yield across all cohorts in a national epilepsy genomics project.

This webinar is a must-see for anyone working to optimize the diagnosis of complex clinical cases and improve patient outcomes in rare and inherited diseases.

In this webinar you will learn how to:

  • Increase efficiency of NGS data analysis and interpretation
  • Improve diagnostic yield in complex clinical cases
  • Provide faster, more accurate answers for patients
Sponsored by