Fig. 5

Z scores obtainedin the a, b, c, d, e, and f sets of adaptive reference samples generated with the adaptive method. Z scores obtained for each sample along with the unambiguous thresholds using the adaptively selected samples represented in Fig. 4 are shown. The study included two T21 samples containing GC contents of the 0.43 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, 0.009 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 second was used to test the positive result using the adaptive samples. The euploid samples within 0.437 ± 0.001 were selected to test negative results