ACMG Annual Clinical Genetics Meeting 2023
Salt Lake City, UT | March 15-17
Meet the Genomenon team in Salt Lake City for ACMG 2023, the premier medical genetics event.
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 our Exhibit Theater presentation that will demonstrate how Mastermind not only supports clinical decisions, but also advances precision medicine efforts.
EXHIBIT THEATER 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, interpreting the clinical significance of these variants, ensuring the utmost accuracy of these designations, and providing the necessary platform to disseminate this information to practitioners. Drawing from examples of specific diseases, he will walk through how Genomenon is addressing these needs through their effort to rapidly curate the entire human genome, and how this work is supporting NGS for NBS programs like Rady Children’s Institute for Genomic Medicine’s BeginNGS and the CDC’s ED3N.
EXHIBIT THEATER SPEAKER
Mark Kiel, MD, PhD
Founder, Chief Scientific Officer, Genomenon
Dr. Kiel is the founder and chief scientific officer of Genomenon, where he supervises the scientific direction of the Mastermind suite of genomic software tools. Mastermind helps Pharma and Clinical Labs connect patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.
Meet us at Booth 1107
Connect with members of our leadership team at ACMG 2023! Talk to a Mastermind Specialist and:
Demo the world’s most comprehensive source of genomic evidence
Schedule 1:1 meetings – on-site or virtually
Learn about extended trials and special offers for clinical labs
Learn about our comprehensive genomic landscapes for Pharma
Decorate your workspace with our ACMG Poster, or test your knowledge with our Variant Interpretation Cards.
Even better – get your own copy of our popular cDNA Codon Charts when you visit our booth.