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 …

Opportunities and challenges in long-read sequencing data analysis

SL Amarasinghe, S Su, X Dong, L Zappia, ME Ritchie… - Genome biology, 2020 - Springer
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

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 …

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 …

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 of the cattle reference genome with single-molecule sequencing

BD Rosen, DM Bickhart, RD Schnabel, S Koren… - …, 2020 - academic.oup.com
Background Major advances in selection progress for cattle have been made following the
introduction of genomic tools over the past 10–12 years. These tools depend upon the Bos …

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

S Nurk, BP Walenz, A Rhie, MR Vollger… - Genome …, 2020 - genome.cshlp.org
Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

K Shafin, T Pesout, R Lorig-Roach, M Haukness… - Nature …, 2020 - nature.com
De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

Fast and accurate long-read assembly with wtdbg2

J Ruan, H Li - Nature methods, 2020 - nature.com
Existing long-read assemblers require thousands of central processing unit hours to
assemble a human genome and are being outpaced by sequencing technologies in terms of …

Assembly of long, error-prone reads using repeat graphs

M Kolmogorov, J Yuan, Y Lin, PA Pevzner - Nature biotechnology, 2019 - nature.com
Accurate genome assembly is hampered by repetitive regions. Although long single
molecule sequencing reads are better able to resolve genomic repeats than short-read data …