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Updated: Mar 21, 2026

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
Published on: August 20, 2021
A hybrid approach for de novo human genome sequence assembly and phasing
Yulia Mostovoy1, Michal Levy-Sakin1, Jessica Lam1
1Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
Abstract:
Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
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