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Fig. 1 | Genome Medicine

Fig. 1

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

Fig. 1

Population-based haplotyping-noninvasive prenatal testing (PBH-NIPT) workflow. The workflow involves 3 parts. We first constructed haplotypes of 59 couples using the haplotypes of 4356 samples as the reference panel. Then, we inferred fetal haplotypes using a hidden Markov model (HMM) and the Viterbi algorithm. Finally, we used invasive prenatal diagnosis results to validate PBH-NIPT results

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Genome Medicine

ISSN: 1756-994X

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