Scatter Plot from Scientific Research

The upper left image displays a dot plot comparing the HG002 assembly to GRCh38 over a 5 Mb region containing the DAZ1 / 2 / 3 / 4 loci, highlighting an inversion between DAZ1 / 2 and DAZ3 / 4. The image on the right provides a detailed view of the rearrangements at the gene scale level, with four tracks indicating the local matches to DAZ1 / 2 / 3 / 4 from top to bottom. Comparison to GRCh38’s DAZ2 reveals that the HG002 assembly is missing a segment (roughly 10 kb) of the darker green. The intergenic region between DAZ3 and DAZ4 also displays a rearrangement that can be described as an incomplete inversion or separate insertions and deletions. The bottom image shows a rearrangement at the whole locus, including all DAZ1 / 2 / 3 / 4 over a 5 Mb region. The principal bundle decomposition reveals the different inverted structure of the HG002 T2T assembly and the HG1258 assembly compared to GRCh38.

DOI