Long-read human genome sequencing and its applications

GA Logsdon, MR Vollger, EE Eichler - Nature Reviews Genetics, 2020 - nature.com
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Bulk segregation analysis in the NGS era: a review of its teenage years

Z Li, Y Xu - The Plant Journal, 2022 - Wiley Online Library
Bulk segregation analysis (BSA) utilizes a strategy of pooling individuals with extreme
phenotypes to conduct economical and rapidly linked marker screening or quantitative trait …

YaHS: yet another Hi-C scaffolding tool

C Zhou, SA McCarthy, R Durbin - Bioinformatics, 2023 - academic.oup.com
We present YaHS, a user-friendly command-line tool for the construction of chromosome-
scale scaffolds from Hi-C data. It can be run with a single-line command, requires minimal …

Telomere-to-telomere assembly of diploid chromosomes with Verkko

M Rautiainen, S Nurk, BP Walenz, GA Logsdon… - Nature …, 2023 - nature.com
Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …

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 …

The earth BioGenome project 2020: Starting the clock

HA Lewin, S Richards… - Proceedings of the …, 2022 - National Acad Sciences
November 2020 marked 2 y since the launch of the Earth BioGenome Project (EBP), which
aims to sequence all known eukaryotic species in a 10-y timeframe. Since then, significant …

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 …

Semi-automated assembly of high-quality diploid human reference genomes

ED Jarvis, G Formenti, A Rhie, A Guarracino, C Yang… - Nature, 2022 - nature.com
The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …

RaGOO: fast and accurate reference-guided scaffolding of draft genomes

M Alonge, S Soyk, S Ramakrishnan, X Wang… - Genome biology, 2019 - Springer
We present RaGOO, a reference-guided contig ordering and orienting tool that leverages
the speed and sensitivity of Minimap2 to accurately achieve chromosome-scale assemblies …

Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing

AS Deshpande, N Ulahannan, M Pendleton… - Nature …, 2022 - nature.com
Abstract High-order three-dimensional (3D) interactions between more than two genomic
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …