Article

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis

2024-06-01

Abstract excerpt

<h4>Purpose</h4> Our study assesses the Horizon model, a novel CNV classification tool developed in line with American College of Medical Genetics (ACMG) guidelines, to enhance the classification of pathogenicity in CNVs. <h4>Methods</h4> Horizon utilizes a ranking-based algorithm, incorporating multiple proprietary databases and variant inheritance models as per ACMG standards. The model’s effectiveness was ver...

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Literature Corpus work: 5bdef5a6-9c75-55ae-a971-0268ee7e5e15
DOI: 10.1101/2024.05.27.596089

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