Targeted sequencing and iterative assembly of near-complete genomes
Gamaarachchi, Hasindu, Stevanovski, Igor, Hammond, Jillian M., Andre, Andre L., Rapadas, Melissa, Jayasooriya, Kavindu, Russell, Tonia, Yeow, Dennis, Hort, Yvonne, Patel, Chirag, Mallett, Andrew J., Stackpoole, Elaine, Roman, Lauren, Silver, Luke W., Hogg, Carolyn J., Streeting, Louise M., Bogdanovic, Ozren, Coelho Rodrigues Noronha, Renata, Santos do Nascimento, Luís Adriano, Lima Cardoso, Adauto, Georges, Arthur, Cheng, Haoyu, Patel, Hardip R., Kumar, Kishore Raj, Mallawaarachchi, Amali C., and Deveson, Ira W. (2025) Targeted sequencing and iterative assembly of near-complete genomes. Nature Communications, 16 (1). 10406.
|
PDF (Published Version)
- Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives. Download (2MB) | Preview |
Abstract
Advances in long-read sequencing (LRS) and assembly algorithms have made it possible to create highly complete genome assemblies for humans, animals and plants. However, ongoing development is needed to improve accessibility, affordability, and assembly quality and completeness. ‘Cornetto’ is a new strategy in which we use programmable selective nanopore sequencing to focus LRS data production onto the unsolved regions of a nascent assembly. This improves assembly quality and streamlines the process, both for humans and non-human vertebrates. Cornetto enables us to generate highly complete diploid human genome assemblies using only nanopore LRS data, surpassing the quality of previous efforts at a fraction of the cost. Cornetto enables genome assembly from challenging sample types like human saliva. Finally, we obtain accurate assemblies for clinically-relevant repetitive loci at the extremes of the genome, demonstrating valid approaches for genetic diagnosis in facioscapulohumeral muscular dystrophy (FSHD) and MUC1-autosomal dominant tubulointerstitial kidney disease (MUC1-ADTKD).
| Item ID: | 89909 |
|---|---|
| Item Type: | Article (Research - C1) |
| ISSN: | 2041-1723 |
| Copyright Information: | ©The Author(s) 2025. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. |
| Date Deposited: | 27 Jul 2026 01:53 |
| FoR Codes: | 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 100% |
| SEO Codes: | 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280102 Expanding knowledge in the biological sciences @ 100% |
| More Statistics |
Actions (Repository Staff Only)
 |
Item Control Page |