As the world’s most comprehensive source of genomic evidence, the Mastermind Genomic Search Engine enhances variant interpretation by reducing turnaround time, increasing diagnostic yield, and accelerating throughput.
Join us for two informative CoLab sessions at ASHG 2022 that demonstrate how Mastermind not only supports clinical decisions, but also advances precision medicine efforts.
Genomenon CoLab Presentation
Variant Interpretation at Scale: Unlocking the Full Potential of Newborn Sequencing
Fulfilling the promise of sequencing to screen for consequential genetic diseases of infancy requires complete and accurate genetic variant evidence to inform accurate diagnostic decisions. In this talk, Dr. Mark Kiel will discuss some of the challenges of scaling the curation of the evidence for published variants, and will walk through how Genomenon is addressing these needs through their effort to rapidly curate the entire human genome.
SPEAKER: Dr. Mark Kiel, Chief Scientific Officer, Genomenon
CURATING THE GENOME TO DRIVE PRECISION DIAGNOSIS IN ENPP1 DEFICIENCY
The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results, and propose curated variant content shared with the clinical community as a novel approach for accelerating rare disease diagnostic workflows and connecting patients to clinical studies and approved therapies.
Catherine Nester, Vice President Physician and Patient Strategies, Inozyme Pharma
Dr. Mark Kiel, Chief Scientific Officer, Genomenon
MEET THE TEAM AT BOOTH #903
Visit our booth to discuss our role in curating the human genome, and to see how our unique solutions are helping advance drug development and improve access to life-saving therapies.
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Improving infant patient outcomes by providing clinicians with powerful insight
As part of our mission to curate the entire human genome, Genomenon will combine AI-powered organization and expert manual review to fully curate all the genes in the BeginNGS screening panel – genes tied to over 400 diseases – and provide the Rady Children’s Institute for Genomic Medicine (RCIGM) with a comprehensive, actionable dataset on the variants that are found to cause disease.
The new BeginNGS™ program, based at RCIGM, is a novel health care delivery system designed to screen newborns for genetic diseases and connect their doctors with effective treatment options. It will improve infant patient outcomes by providing clinicians with powerful insight on how these diseases form, and how to treat them, creating life-saving opportunities for patients and their families at very early stages.