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French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Clinical genetics - 1 Jan 2026

Pebrel-Richard Céline, Kuentz Paul, Tabet Anne-Claude, Dupont Jean-Michel, Missirian Chantal, Romana Serge, Trost Detlef, Rooryck Caroline, Malan Valérie, Egloff Matthieu

Abstract excerpt

Over the past 15 years, molecular methods for human genome analysis have evolved significantly, becoming integral to routine genetic diagnostics. Among various genomic alterations, copy-number variations (CNVs) are particularly important as sources of both benign and pathogenic variants. Accurate assessment of these variants' clinical implications is critical, especially for rare, non-recurrent CNVs and for...

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PMID: 40693340
DOI: 10.1111/cge.70027

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