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Accelerating the Development of Diagnostic Tests with the New NGS Benchmark

featuring speakers:

What you'll learn:

Long-read sequencing technologies have advanced the research community’s ability to understand the role of medically relevant genes that have been difficult to assess until now. A new benchmark report published in Nature Biotechnology allows diagnostics companies to explore a wide range (273 out of 395) of challenging genes and structurally variant types and is designed to improve genome sequencing information for diagnosis and treatment of disease.

The study was developed in partnership with the Genome in a Bottle (GIAB) consortium, led by the National Institute of Standards and Technology (NIST), Baylor College of Medicine, and DNAnexus. The new benchmark covers more challenging classes of variants, including structural variants and characterizes 273 out of 395 challenging autosomal genes.

Learn more about the new benchmark with the authors Dr. Justin Zook of NIST and Dr. Fritz Sedlazeck of Baylor, and find out how to save time and resources while speeding up the R&D efforts by watching the webinar and by downloading your copy of The New NGS Benchmark.

Learn how this new benchmark can help labs & clinics:

  • Sequence challenging genes more accurately
  • Improve detection of medically relevant variants
  • Gain a better understanding of human disease
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