Article

Vision-Based Genomic Model for Copy Number Variant Pathogenicity Prediction

2026-05-26

Abstract excerpt

Copy number variants (CNVs) are a major class of structural genomic alterations underlying rare disease, including neurodevelopmental delay and intellectual disability, yet predicting their pathogenicity remains challenging. Existing methods reduce CNVs to region-level numerical features, discarding the positional structure and cross-track patterns that expert clinical reviewers use to interpret genomic evidence....

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Literature Corpus work: b76b73d3-316e-507a-b358-ae36e6316866
DOI: 10.64898/2026.05.21.726953

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