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Genomenon | 🖥️ 🧬 Labroots Genetics Virtual Week 2022

Michigan Business Network
April 20, 2022 11:00 AM


Thought Leader Perspectives

This year’s Genetics Virtual Week features valued customers and experts in the areas of rare disease genomics, molecular diagnostics, and precision medicine. Below are some compelling discussions that you won’t want to miss. Can't make the live event? Register and get access to the recordings.

WEDNESDAY, APRIL 20, 2022 | 1:30PM PDT/4:30PM EDT
Panel Presentation:
Curating the Genome to Drive Precision Diagnosis in Clinical Care
Catherine Nester
Vice President of Physician and Patient Strategies, Inozyme Pharma
Mark Kiel, MD, PhD
Chief Scientific Officer,
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.
Learning Objectives:
  • Identify how a combination of AI-based indexing and expert, manual review is used to produce disease-specific curated content.
  • Summarize the clinical characteristics, diagnosis, and clinical testing for ENPP1 Deficiency.
  • Examine how integration of disease-specific curated content into the variant interpretation workflow can increase diagnostic and treatment rates.
ON-DEMAND | APRIL 19-23, 2022
Standardization of the Interpretation and Reporting of Sequence Variants Identified in Neoplasms
Nikita Mehta, MS, CGCSenior Genetic Analysis Specialist, Memorial Sloan Kettering Cancer Center
Learning Objectives:
  • Discuss key elements from the AMP/ASCO/CAP guidelines for somatic variant interpretation and the ACMG/AMP guidelines for germline variant interpretation.
  • Review certain evidence criteria in this newly developed framework and how they may be combined into a classification.
  • Compare the performance of this approach with other classification models.
Explore & Discover!
The Genomenon Team

About Genomenon

Genomenon is an AI-driven genomics company that organizes the world’s genomic knowledge to connect patient DNA to scientific research in the diagnosis and development of treatments for patients with rare genetic diseases and cancer.

For more information, visit Genomenon.com

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