The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies
Si Lok, Timothy N. H. Lau, Amy HY Tong, Brett Trost, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Tara Paton, Jeffrey R. MacDonald, Lynette Y. S. Lau, Christian R. Marshall, J. Craig Venter, Stephen W. Scherer
The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.
medRxiv · May 8, 2026 · PreprintGenetic & Genomic Medicine