Long-read human genome sequencing and its applications
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 …
emerged as powerful players in genomics. With the ability to generate reads tens to …
Opportunities and challenges in long-read sequencing data analysis
Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …
broadening their application domains in genomics. Dedicated analysis tools that take into …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
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
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
A complete reference genome improves analysis of human genetic variation
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 …
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 …
crop evolution, domestication, and improvement. Here, we assembled 31 high-quality …
A structural variation reference for medical and population genetics
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …
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 …
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 …
allows their application to variant detection at a scale of tens to thousands of samples …