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Fig. 3 | BMC Medical Genomics

Fig. 3

From: An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women

Fig. 3

Z scores obtained in the a, b, c, d, e, and f sets of adaptive reference samples generated using the adaptive method. Z scores obtained for each sample along with the unambiguous thresholds using the adaptively selected samples represented in Fig. 2 are shown. The study included five T21 samples containing GC contents of the 0.42 region. The first (a representative test sample) was used to select adaptive samples according to a GC range and a reads fraction range of the representative sample. For example, 0.004 and 1e-05 represent a GC range and a reads fraction range of the representative sample, respectively, in the A set of adaptive reference samples. The others were used to test positive results using the adaptive reference samples. The euploid samples within 0.424 ± 0.001 were selected to test negative results

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