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Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel

18 Jul 2024

Abstract excerpt

OBJECTIVE: This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes. METHODS: Using targeted next-generation sequencing, a customized panel with 334 genes was performed on...

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PMID: 39030774
DOI: 10.1002/pd.6635

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