Fig. 1: Quality control of the RPE-1 genome.
From: The reference genome of the human diploid cell line RPE-1
a Assembly graph of the RPE-1 diploid genome generated by Verkko v1.4, used to generate the final RPE1v1.1 reference, visualized using Bandage. The phased blocks are colored in red (Hap1) and blue (Hap2). The short arms of chromosomes 13, 14, 15, 21, and 22, which contain rDNA arrays, are unphased and appear as tangled regions. b Merqury assembly spectrum plot for the evaluation of RPE1v1.1 genome quality based on the comparison of k-mers from HiFi and k-mers from the assembly. The plot displays the multiplicity distribution of four categories of read-derived k-mers: k-mers found only in the reads (read-only), those unique to each haplotype assembly, and those shared between the two haplotypes (shared). c Circos plot showing Clip-based Regional Errors (CREs, blue) and the heterozygous sites (green) identified by CRAQ at specific genomic regions for each chromosome of RPE1v1.1 Hap1 and Hap2. d Bar plot showing, for each RPE1v1.1 chromosome, the amount of sequence (in kb), classified by Flagger as erroneous (orange), collapsed (blue) or haploid (structurally correct, green).
