Next-generation sequencing technology: current trends and advancements

H Satam, K Joshi, U Mangrolia, S Waghoo, G Zaidi… - Biology, 2023 - mdpi.com
Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

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 …

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 …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

Pangenomic analysis identifies structural variation associated with heat tolerance in pearl millet

H Yan, M Sun, Z Zhang, Y Jin, A Zhang, C Lin, B Wu… - Nature Genetics, 2023 - nature.com
Pearl millet is an important cereal crop worldwide and shows superior heat tolerance. Here,
we developed a graph-based pan-genome by assembling ten chromosomal genomes with …

Next-generation sequencing technologies: An overview

T Hu, N Chitnis, D Monos, A Dinh - Human Immunology, 2021 - Elsevier
Since the days of Sanger sequencing, next-generation sequencing technologies have
significantly evolved to provide increased data output, efficiencies, and applications. These …

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 …

Haplotype-resolved assembly of diploid genomes without parental data

H Cheng, ED Jarvis, O Fedrigo, KP Koepfli… - Nature …, 2022 - nature.com
Routine haplotype-resolved genome assembly from single samples remains an unresolved
problem. Here we describe an algorithm that combines PacBio HiFi reads and Hi-C …

Metagenomics-enabled microbial surveillance

KKK Ko, KR Chng, N Nagarajan - Nature Microbiology, 2022 - nature.com
Lessons learnt from the COVID-19 pandemic include increased awareness of the potential
for zoonoses and emerging infectious diseases that can adversely affect human health …