ASK THE MASTERMINDS

ACMG CLASSIFICATION FOR RARE DISEASE
THURSDAY, JUNE 23, 2022

The American College of Medical Genomics (ACMG), in collaboration with the Association for Molecular Pathology (AMP), guides internationally accepted standards for the interpretation of genomic variants1. While some of the evidence is based on population or computational data, some of the criteria are based on peer-reviewed clinical and functional literature evidence. For rare diseases, this evidence can be difficult to find.

In this live webinar, we will demonstrate how the Mastermind® Genomic Search Engine can be used to efficiently score germline variants according to ACMG/AMP criteria, and describe how Mastermind creates certainty for rare disease clinicians.

You will learn:

  • How to more quickly identify and prioritize publications by ACMG variant classification guidelines
  • How a combination of increased sensitivity and specificity in literature search accelerates variant interpretation workflow, and results in fewer false negatives
  • How finding a single paper can significantly impact a patient outcome

EXPERT SPEAKERS

Jeffrey Bissonnette

Program Manager
Jeffrey is a program manager and genetic counselor with extensive experience in comprehensive variant analysis and interpretation.

Lauren Chunn

Medical Science Liaison
Lauren is a medical science liaison with expertise in applied genomics in both clinical and pharmaceutical settings. She engages with clients to understand their program needs and collaborates on precise genomic solutions.
1 https://www.nature.com/articles/gim201530

WEBINAR TRANSCRIPT COMING SOON!