Article

CoNVict: An Agentic AI System for Copy Number Variation Prioritization in Rare Disease Diagnosis

2026-03-17

Abstract excerpt

Copy number variants (CNVs) are established contributors to rare genetic disorders, yet their clinical interpretation remains challenging in diagnostic genomics. Large CNVs frequently encompass multiple functional regions whose clinical significance can only be resolved in the context of the patient’s phenotype. Effective prioritization demands variant-level scoring of dosage sensitivity, structural consequences,...

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Literature Corpus work: b185303e-f885-546b-8e88-868e42e5d5dd
DOI: 10.64898/2026.03.16.26348493

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