using artificial intelligence for implementing new recommendations of the pvs1 loss of function criterion

December 20, 2021 12:33 pm Published by Leave your thoughts

The aiVCE algorithm demonstrated excellent concordance with the ClinGen SVI Workgroup results. Further, the 5 variants demonstrating discordant classification strength illustrate an advantage of using an AI-based tool, as the identification of these variants as P were in agreement with the new ClinGen SVI Workgroup recommendations. Implementation of new recommendations for more accurate interpretation of null variants involves demanding and complex bioinformatics work, and AI-based solutions can enhance current interpretation guidelines.

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