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Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

5 Feb 2021

Abstract excerpt

BACKGROUND: Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, and molecular haplotyping is highly challenging due to its high cost, long turnaround time, and complexity. Here, we proposed a new two-step approach, population-based haplotyping-NIPT (PBH-NIPT),...

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PMID: 33546747
DOI: 10.1186/s13073-021-00836-8

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