[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications

Y Wang, Y Zhao, A Bollas, Y Wang, KF Au - Nature biotechnology, 2021 - nature.com
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Twenty years of plant genome sequencing: achievements and challenges

Y Sun, L Shang, QH Zhu, L Fan, L Guo - Trends in Plant Science, 2022 - cell.com
Publication of the complete genome sequence of Arabidopsis thaliana, the first plant
reference genome, in December 2000 heralded the beginning of the plant genome era …

Super-pangenome analyses highlight genomic diversity and structural variation across wild and cultivated tomato species

N Li, Q He, J Wang, B Wang, J Zhao, S Huang… - Nature Genetics, 2023 - nature.com
Effective utilization of wild relatives is key to overcoming challenges in genetic improvement
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …

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 …

Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

H Cheng, GT Concepcion, X Feng, H Zhang, H Li - Nature methods, 2021 - nature.com
Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence
variations in a genome. However, existing algorithms either collapse heterozygous alleles …

De novo assembly, annotation, and comparative analysis of 26 diverse maize genomes

MB Hufford, AS Seetharam, MR Woodhouse… - Science, 2021 - science.org
We report de novo genome assemblies, transcriptomes, annotations, and methylomes for
the 26 inbreds that serve as the founders for the maize nested association mapping …

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

K Shafin, T Pesout, PC Chang, M Nattestad… - Nature …, 2021 - nature.com
Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …

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 …

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 …