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Ann Arbor Spark

Genomics Webinar | Ask the Masterminds: ACMG Classification for Rare Disease

Thursday, June 23 2022 at 11:00am - 12:00pm

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 variants*. 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:

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.

Try Mastermind for yourself! Create your account here and get started with a free trial of Professional Edition: https://bit.ly/3lGDpJ0

*https://www.nature.com/articles/gim201530