This webinar discusses an approach for automating variant classification based on the American College of Medical Genetics and Genomics guidelines.
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foundation for this process, but several key obstacles remain. In particular, the identification and prioritization of key publications presents a time- and resource-intensive challenge for many labs.
View this webinar for a discussion on how Veritas Genetics collaborated with Genomenon to develop a new Literature Classification Tool within the Mastermind Genomic Search Engine to address these challenges.
The speakers demonstrate:
- How to more efficiently identify and prioritize publications by ACMG variant classification guidelines
- How increased specificity and immediate access to annotated search results accelerates variant interpretation workflow
- How increased sensitivity in literature search results in fewer false negatives
The speakers discuss promising Veritas trial results that point to a better and faster variant interpretation workflow using the new Literature Curation tool in the Mastermind Genomic Search Engine.