July 11, 2018
Sponsored by
Genomenon

Accelerating Patient Diagnosis with Automated Literature Curation for Inherited Disease

GenomeWebinar

VP of Clinical Affairs, Veritas Genetics

Founder, Genomenon

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.

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