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

WHY IT MATTERS

If your child has unexplained developmental delays or birth defects and genetic testing found copy number variants, this AI tool could help doctors identify which variant is actually responsible for your child's condition, potentially speeding up diagnosis.

Scientists created a new AI system called CoNVict that helps doctors figure out which genetic changes are actually causing rare diseases. Copy number variants (CNVs) are sections of DNA that are duplicated or missing, and they can cause genetic disorders, but it's hard to know which ones matter. This new tool uses artificial intelligence to automatically score and rank these genetic changes so doctors can focus on the ones most likely to be causing a patient's symptoms.

CoNVict: An Agentic AI System for Copy Number Variation Prioritization in Rare Disease Diagnosis Authors: Gencturk, M. M. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: 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 patients phenotype. Effective prioritization demands variant-level scoring of dosage sensitivity, structural consequences, and disease associations, and systematic comparison of candidates within the same clinical context. Current computational tools only partially address these requirements: they automate