using artificial intelligence for detection of hotspot regions

ACMG/AMP PM1 Criterion

Genoox demonstrated AI-based algorithms can aid in the detection of exonic and domain hotspot locations in genes. Due to the lack of gold standard databases for applying PM1 rule, An AI-based hotspot detection is highly desirable. Our results show that the identification of the hotspot was consistent with the final classification of a variant by the Expert Panels. As such, it can be valuable tool for making future investigations of gene-based variant classification.

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