Fig. 3: Contiguity, haplotype alignment to CHM13 and new sequences.
a, Alignment of child assemblies to CHM13 for individual chromosomes. Individual contigs are delineated with distinct colors per chromosomal haplotype. Diamond symbols denote the end points of CHM13 haplotypes. b, Percentage of completeness (y axis) relative to CHM13 per chromosome (x axis), colored by the number of contigs in the alignment. c, Alignment of chromosome 10 of Qatari 2 (top) child assembly to CHM13 (bottom) showing a singular contig spanning the entire chromosome with notable centromeric variation. d, Length of new sequences identified across samples, highlighting location in centromeric regions (left), repetitive regions (middle) and intergenic, intronic/UTR and exonic regions either inside or outside repetitive regions (right). LC, low complexity; LTR, long terminal repeats; SINE, short interspersed nuclear element; Unk, unknown.
