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In this live discussion and demonstration, industry experts will show how a comprehensive, pre-curated list of causative variants can be used to rapidly screen for rare diseases and how a unique combination of AI-driven genomic technology and expert scientific review has emerged as the best and most viable way to curate the entire human genome.

The speakers will describe Genomenon’s contributions to the BeginNGS™ initiative at the Rady Children’s Institute for Genomic Medicine, and how pre-curated classifications for every variant found in the scientific literature will be used to screen against over 450 genetic diseases at birth. They will then show how variant classification and supporting evidence are presented in the Mastermind® Genomic Search Engine to enable rapid assessment and identification of newborns at risk for developing a rare disease.

You will learn:

How a unique balance of AI and expert review creates a solid foundation of high-quality evidence to understand the genetic basis of a targeted disease
How the integration of data from the scientific literature with commonly used variant databases like ClinVar streamline accurate and timely diagnoses for patients
How this approach is being used to comprehensively access and classify every variant in the human genome, starting with newborn sequencing applications

Speakers:

  • Mark Kiel, MD, Ph.D., Chief Scientific Officer
    Mark is the founder and chief scientific officer at Genomenon, where he oversees the company’s scientific direction and product development.
  • Brittnee Jones, Ph.D., Director of Customer Success, Genomenon
    With over a decade of building and leading customer success teams across the NGS space, Brittnee ensures rapid product adoption and maximal value for Mastermind users.

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