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 …

[HTML][HTML] Assembly algorithms for next-generation sequencing data

JR Miller, S Koren, G Sutton - Genomics, 2010 - Elsevier
The emergence of next-generation sequencing platforms led to resurgence of research in
whole-genome shotgun assembly algorithms and software. DNA sequencing data from the …

[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 …

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

VA Schneider, T Graves-Lindsay, K Howe… - Genome …, 2017 - genome.cshlp.org
The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …

De novo assembly of human genomes with massively parallel short read sequencing

R Li, H Zhu, J Ruan, W Qian, X Fang, Z Shi… - Genome …, 2010 - genome.cshlp.org
Next-generation massively parallel DNA sequencing technologies provide ultrahigh
throughput at a substantially lower unit data cost; however, the data are very short read …

Variation graph toolkit improves read map** by representing genetic variation in the reference

E Garrison, J Sirén, AM Novak, G Hickey… - Nature …, 2018 - nature.com
Reference genomes guide our interpretation of DNA sequence data. However, conventional
linear references represent only one version of each locus, ignoring variation in the …

[HTML][HTML] Personal omics profiling reveals dynamic molecular and medical phenotypes

R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam… - Cell, 2012 - cell.com
Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …

Graph-based pan-genome reveals structural and sequence variations related to agronomic traits and domestication in cucumber

H Li, S Wang, S Chai, Z Yang, Q Zhang, H **n… - Nature …, 2022 - nature.com
Structural variants (SVs) represent a major source of genetic diversity and are related to
numerous agronomic traits and evolutionary events; however, their comprehensive …

The Human Pangenome Project: a global resource to map genomic diversity

T Wang, L Antonacci-Fulton, K Howe, HA Lawson… - Nature, 2022 - nature.com
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …

Pan-genomics in the human genome era

RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …