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