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 …

A draft human pangenome reference

WW Liao, M Asri, J Ebler, D Doerr, M Haukness… - Nature, 2023 - nature.com
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga… - Science, 2021 - science.org
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

Pan-genome analysis of 33 genetically diverse rice accessions reveals hidden genomic variations

P Qin, H Lu, H Du, H Wang, W Chen, Z Chen, Q He… - Cell, 2021 - cell.com
Structural variations (SVs) and gene copy number variations (gCNVs) have contributed to
crop evolution, domestication, and improvement. Here, we assembled 31 high-quality …

A structural variation reference for medical and population genetics

RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi… - Nature, 2020 - nature.com
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

[HTML][HTML] Pan-genome of wild and cultivated soybeans

Y Liu, H Du, P Li, Y Shen, H Peng, S Liu, GA Zhou… - Cell, 2020 - cell.com
Soybean is one of the most important vegetable oil and protein feed crops. To capture the
entire genomic diversity, it is needed to construct a complete high-quality pan-genome from …

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 …