Towards population-scale long-read sequencing

W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

FJ Sedlazeck, H Lee, CA Darby, MC Schatz - Nature Reviews Genetics, 2018 - nature.com
Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

A complete telomere-to-telomere assembly of the maize genome

J Chen, Z Wang, K Tan, W Huang, J Shi, T Li, J Hu… - Nature …, 2023 - nature.com
A complete telomere-to-telomere (T2T) finished genome has been the long pursuit of
genomic research. Through generating deep coverage ultralong Oxford Nanopore …

Emergence of methicillin resistance predates the clinical use of antibiotics

J Larsen, CL Raisen, X Ba, NJ Sadgrove… - Nature, 2022 - nature.com
The discovery of antibiotics more than 80 years ago has led to considerable improvements
in human and animal health. Although antibiotic resistance in environmental bacteria is …

Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing

M Alonge, L Lebeigle, M Kirsche, K Jenike, S Ou… - Genome biology, 2022 - Springer
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating …

JBrowse 2: a modular genome browser with views of synteny and structural variation

C Diesh, GJ Stevens, P Xie, T De Jesus Martinez… - Genome biology, 2023 - Springer
We present JBrowse 2, a general-purpose genome annotation browser offering enhanced
visualization of complex structural variation and evolutionary relationships. It retains core …

Significantly improving the quality of genome assemblies through curation

K Howe, W Chow, J Collins, S Pelan, DL Pointon… - …, 2021 - academic.oup.com
Genome sequence assemblies provide the basis for our understanding of biology.
Generating error-free assemblies is therefore the ultimate, but sadly still unachieved goal of …

A unified catalog of 204,938 reference genomes from the human gut microbiome

A Almeida, S Nayfach, M Boland, F Strozzi… - Nature …, 2021 - nature.com
Comprehensive, high-quality reference genomes are required for functional characterization
and taxonomic assignment of the human gut microbiota. We present the Unified Human …

Trycycler: consensus long-read assemblies for bacterial genomes

RR Wick, LM Judd, LT Cerdeira, J Hawkey, G Méric… - Genome biology, 2021 - Springer
While long-read sequencing allows for the complete assembly of bacterial genomes, long-
read assemblies contain a variety of errors. Here, we present Trycycler, a tool which …

Towards complete and error-free genome assemblies of all vertebrate species

A Rhie, SA McCarthy, O Fedrigo, J Damas, G Formenti… - Nature, 2021 - nature.com
High-quality and complete reference genome assemblies are fundamental for the
application of genomics to biology, disease, and biodiversity conservation. However, such …