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.
In this presentation, Dr. Mark Kiel, CSO and Co-Founder of Genomenon will discuss challenges to automating variant interpretation while improving the accuracy and reproducibility of the process using Mastermind - the world's most comprehensive literature-based Genomic Search Engine. He will guide the viewer through examples of Mastermind users, including the Rare Genomics Institute who were able to change their patients' diagnoses using findings that were only identified through Mastermind.
1. How to more efficiently identify and prioritize publications by ACMG variant classification guidelines.
2. How increased specificity and immediate access to annotated search results accelerates variant interpretation workflow.
3. How increased sensitivity in literature search results in fewer false negatives.