Figure 1 | Scientific Reports

Figure 1

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

Figure 1

Overview of single-gene NIPT. (A) Clinical workflow uses a single tube of maternal blood. Amplicon-based assays are performed and sequenced using an Illumina Miseq instrument. (B) Bioinformatic analyses recover the dosage of pathogenic alleles, the fraction of cfDNA isolated from maternal blood that is of fetal origin, the number of DNA molecules assayed, and paternal inheritance of variants not found in the mother’s genotype. These analyses are combined with the maternal genotype to perform a statistical analysis of fetal genotype, resulting in an NIPT report.

Back to article page