Fig. 2
The cfDNA nucleosome footprint in maternal plasma reveals nucleosome positioning and gene expression of maternal and fetal nucleosomes in trisomies. A Mean expression levels of the 500 most‐ (Top500, red) and least‐expressed (Bottom500, blue) genes in the placenta. B Promoter coverage patterns for the 500 most‐ (Top500, red line) and least‐expressed (Bottom500, blue line) genes in the placenta. C Mean expression levels of the 500 most- (Top500, red) and least expressed (Bottom500, blue) genes in the maternal blood. D Promoter coverage patterns for the 500 most- (Top500, red line) and least-expressed (Bottom500, blue line) genes in the maternal blood. E Principal component analysis (PCA) derived from TSS coverage profiles imputed by different trisomy pregnancies and healthy pregnant women. F Volcano plots of gene transcripts with differential read coverages at the pTSS (|log2FoldChange|≥ 1.5 and false discovery rate [FDR] < 0.2) at the pTSS detected using whole-genome sequencing for all trisomy pregnancies samples. The blue, red, and gray dots indicate gene promoters though to be downregulated, upregulated, and exhibiting non-differential coverage, respectively. G Heatmap of different TSS region coverage between normal pregnancy and trisomic pregnancies