Genomenon introduced a new tool for ACMG classification as part of Mastermind Professional Edition during the 2018 ACMG meeting. This new tool quickly identifies and prioritizes articles which cite evidence for ACMG classification criteria for each variant, such as those that include functional studies, segregation information, and more.
ACMG Exhibit Theater Summary:
To scale the practice of precision genomic medicine, we need to eliminate the variant interpretation bottleneck that is constraining so many labs today. The ACMG variant classification framework has provided a foundation for standardizing classification; however several key challenges remain. A time and resource-intensive challenge is the identification and prioritization of key publications.
This presentation explained how Genomenon and Veritas Genetics collaborated to add filtration and prioritization tools based on ACMG data elements to the Mastermind Genomic Search Engine. Creators Mark Kiel and Birgit Funke discussed how this tool can identify and prioritize publications based on their likelihood to contain data relevant for ACMG-rule-driven variant classification, and therefore accelerate your variant interpretation workflow.
Birgit Funke, PhD, FACMG, and VP of Clinical Affairs for Veritas Genetics
Mark Kiel, MD, PhD, CSO and Founder of Genomenon, Inc.