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A guidelines-consistent carrier screening panel that supports equity across diverse populations

30 Nov 2021

Abstract excerpt

PURPOSE: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) suggest carrier screening panel design criteria intended to ensure meaningful results. This study used a data-driven approach to interpret the criteria to identify guidelines-consistent panels. METHODS: Carrier frequencies in >460,000 individuals across 11 races/ethnicities were...

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PMID: 34906503
DOI: 10.1016/j.gim.2021.09.009

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