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The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies

2026-05-08

Abstract excerpt

The first draft diploid genome assembly (HuRef) of an individual released in 2007 was a milestone in genomics. Here, we report HuRef2.0, a revision of HuRef assembled using a scalable two-step workflow employing only Oxford Nanopore Technologies (ONT) Simplex reads and the hifiasm assembler. Results are close in continuity to the recent telomere-to-telomere (T2T) assemblies, but were assembled from standard DNA sa...

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Literature Corpus work: d23cbc82-dc45-56ac-87a9-4325c64294da
DOI: 10.64898/2026.05.01.26352134

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