Figure 6 | Scientific Reports

Figure 6

From: A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT

Figure 6

NIPT of rs713040 in HBB exon 1. (A) Probability distribution of sample 04B for paternal inheritance resulting in a NIPT homozygous call. (B) Probability distribution of sample 38 C for paternal inheritance resulting in a NIPT heterozygous call. Black and white arrows indicate diagnostic measurements of allele fraction, GE, and fetal fraction. (C) Negative call for recessive NIPT resulting in a homozygous child. (D) Negative recessive NIPT call resulting in a heterozygous child. (E) Positive recessive NIPT call resulting in an ‘affected’ child.

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