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Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disorders

11 Oct 2023

Abstract excerpt

Abstract Haplotype‐based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single‐gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting...

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PMID: 37822034
DOI: 10.1111/cge.14434

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