Genetic & Genomic MedicinemedRxivPreprint
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…·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.