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Updated: Jan 10, 2026
12:08
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
5.7K
Targeted sequencing and iterative assembly of near-complete genomes
Hasindu Gamaarachchi1,2, Igor Stevanovski1, Jillian M Hammond1
1Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Nature Communications
|November 24, 2025
Summary
Cornetto, a novel selective nanopore sequencing strategy, enhances genome assembly quality and affordability for humans and vertebrates. This method achieves highly complete diploid human genome assemblies, even from challenging samples like saliva.
Area of Science:
- Genomics
- Bioinformatics
Background:
- Long-read sequencing (LRS) and assembly algorithms have advanced genome assembly.
- Improvements in accessibility, affordability, and quality are still needed.
Purpose of the Study:
- Introduce 'Cornetto,' a strategy using programmable selective nanopore sequencing.
- Enhance genome assembly quality, completeness, and streamline the process.
- Enable high-quality diploid human genome assemblies from challenging samples.
Main Methods:
- Utilized programmable selective nanopore sequencing to focus LRS data production.
- Applied Cornetto strategy to human and non-human vertebrate genomes.
- Generated diploid human genome assemblies using only nanopore LRS data.
Main Results:
- Achieved highly complete diploid human genome assemblies with improved quality and reduced cost.
- Successfully assembled genomes from challenging sample types, including human saliva.
- Obtained accurate assemblies for clinically relevant repetitive loci, aiding genetic diagnosis in FSHD and MUC1-ADTKD.
Conclusions:
- Cornetto significantly improves genome assembly efficiency and quality.
- The strategy offers a cost-effective approach for generating high-quality diploid human genomes.
- Cornetto provides a viable method for genetic diagnosis of complex diseases.
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