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GenomeWebinars

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

VP of Research and Development, NeoGenomics

This webinar will provide a first-hand look at how a clinical lab evolved its tumor profiling workflow from a targeted panel approach toward comprehensive genomic profiling.  

Cancer is a highly complex disease and understanding the various alterations that together determine mechanisms of disease onset, progression, recurrence, and response to treatment is not trivial. These alterations, however, are not all found at the DNA level. Multimodal approaches can generate a profile of these various alterations, but this approach requires a fragmented and challenging workflow.

More recently, the field has started moving toward comprehensive genomic profiling (CGP), enabling a snapshot of the genetic makeup of the tumor at a specific timepoint. This approach provides insights beyond mutations at the nucleotide level that may provide a better understanding of the state of the disease and the various pathways that modulate its progression and response to its environment, including treatment.

In this webinar, Vincent Funari of NeoGenomics will discuss how his team has evolved its profiling approaches for both heme and solid tumors from targeted panels to more comprehensive genomic profiling.

Dr. Funari will highlight tools that enable a more streamlined path for adopting CGP, enabling operational efficiencies such as reduced overall cost while delivering high-quality data. He will also share additional insights his team gained into alterations that were previously missed due to limitations of current technologies.

Sponsored by

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