Figure 2.

Genome imaging and chromosome differences

(A) Nucleus of a primary human fibroblast imaged using 3D FISH with the maternal and paternal copies of Chromosome 6, 8, and 11 painted red, green, and white, respectively (left). Subsection highlighting the separation between the maternal and paternal copies of Chromosome 11, now colored red (right).

(B) Normalized chromosome level structural and functional parental differences of GM12878 cells. Structural differences (Δ Structure, blue) represent the aggregate changes between maternal and paternal Hi-C over all 1 Mb loci for each chromosome, adjusted for chromosome size in G1. Functional differences (Δ Function, red) represent the aggregate changes between maternal and paternal RNA-seq over all 1 Mb loci for each chromosome, adjusted for chromosome size in G1. Green dashed lines correspond to the median structural (0.48, chromosome 3) and functional (0.20, chromosome 6) differences, in the top and bottom respectively, and all chromosomes equal to or greater than the threshold are labeled. Scatterplot of maternal and paternal differences in structure and function with best-fit line (R = 0.66 and p = 0.007).