GenomicsHuman GeneticsPeer-reviewed
Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis
Mariam Eldesouky, Suhana Shiyas, Md. Amirul Islam…·Nasna Nassir
The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.
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