NCM 2022: Expanding studies of global genomic diversity with complete, telomere-to-telomere assembly of diploid genomes

The Telomere-to-Telomere (T2T) consortium has finished the first truly complete sequence of a human genome, representing gapless assemblies for all 22 autosomes plus chromosomes X and Y. The newly completed regions include all centromeric satellite arrays and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies for the first time. Progress made to date has been focused exclusively on a single, effectively haploid cell line of European ancestry and although human in nature, does not represent a natural human diploid genome. Here, we demonstrate the use of a new innovative assembly method, Verkko, to phase and reconstruct complete human chromosomes using a combination of high-coverage highly accurate reads (HiFi or Duplex) and ultra-long nanopore datasets (ONT-UL). In parallel, will discuss new automated workflows to assess base-level accuracy and correct structural reconstruction of repetitive regions.