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. 2021 Feb 5;13:18. doi: 10.1186/s13073-021-00836-8

Fig. 1.

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