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Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach

11 Mar 2025

Abstract excerpt

PURPOSE: Professional organizations recommend pan-ancestry carrier screening for autosomal recessive and X-linked conditions. Advances in DNA sequencing have allowed the analysis of hundreds of genes; however, the optimal number of genes for carrier screening remains unclear. The American College of Medical Genetics and Genomics (ACMG) has proposed a tiered approach recommending screening for 113 genes. METHODS:...

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PMID: 40084622
DOI: 10.1016/j.gim.2025.101387

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