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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

4 May 2020

Abstract excerpt

PURPOSE: To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States. METHODS: Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) based CS for up to 274 genes. Detection rates were compared with literature-reported values derived from disease prevalence and carrier frequencies. Combined...

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PMID: 32366966
DOI: 10.1038/s41436-020-0807-4

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