The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance

Stefano Medaglia, Jaume Reig-Palou, Ariadna Belles, Nerea Moreno-Ruiz,Jairo Rodriguez, Xavier Armengol,Juan Ignacio Arostegui,Lluis Armengol, Juan Jose Guillen,Hafid Laayouni,Ferran Casals

Clinical genetics（2024）

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Key words

carrier screening,functional annotation,recessive disorders,VOUS

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