Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis
Mariam Eldesouky, Suhana Shiyas, Md. Amirul Islam, Md. Nahid Hasan, Md. Tanvir Hossaın, Hosneara Akter, Md. Saiful, Bakhrom K. Berdiev, Wolfgang Michael Kuebler, Proton Rahman, Marc Woodbury‐Smith, Syed M. Hasan, Mohammed J. Uddin, 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.
Human Genetics · Feb 19, 2026Peer-reviewedGenomics