implementation of gene specific clingen variant classification recommendations using artificial intelligence

December 20, 2021 12:32 pm Published by Leave your thoughts

Frequency Thresholds

The 2015 ACMG/AMP sequence variant interpretation guidelines provided a framework for classifying variants based on several benign and pathogenic evidence criteria. Recently, ClinGen has introduced several expert gene/disease panels to establish more specific classification recommendations.

We hypothesized that artificial intelligence (AI)-based algorithms that are focused on implementation of gene-specific recommendations may aid in the process of variant curation.

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