Long-read sequencing can help resolve challenging regions of the genome, detect complex structural variants, and facilitate de novo assembly.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genet Med. 2017.Merker,J.D., Wenger,A.M., Sneddon,T., Grove,M., Zappala,Z., Fresard,L., Waggott,D., Utiramerur,S., Hou,Y., Smith,K.S. et al. (2018) Long-read genome sequencing identifies...
In the current manuscript, we describe the use of long-read genome sequencing to identify a ~2.2 kb deletion inPRKAR1Ain a patient with Carney complex, providing a molecular explanation for disease. This first successful application of genome LRS to identify a pathogenic variant in a patient...
而这知识long-read sequencing的一个例子,基于重大的方法层面进步以及广泛的应用领域,《nature method》选择long-read sequencing作为2022年度方法。 The complete sequence of a human genome | Science Sergey Nurk et al. ,The complete sequence of a human genome.Science376,44-53(2022).DOI:10.1126/science....
Benchmarking long-read genome sequence alignment tools for human genomics applications Background. The utility of long-read genome sequencing platforms has been shown in many fields including whole genome assembly, metagenomics, and amplicon ... J Lotempio,E Delot,E Vilain - 《Peerj》 被引量: ...
标题(英文): The Gossypium herbaceum L. Wagad genome as a resource for understanding cotton domestication 标题(中文): 作为了解棉花驯化的资源,印度棉(Gossypium herbaceum L. Wagad)基因组 发表期刊: G3 Genes/Genomes/Genetics 作者单位: 德保罗大学、爱荷华州立大学等 ...
Sentieon | 每周文献-Long Read Sequencing-第十八期 长读长测序系列文章-1 标题(英文):Chromosome-Level Genome Assembly of the Green Peafowl (Pavo muticus) 标题(中文):绿孔雀(Pavo muticus)的染色体级基因组组装 发表期刊:Genome Biology and Evolution...
Long-read sequencing is promising for the comprehensive discovery of structural variations (SVs). However, it is still non-trivial to achieve high yields and performance simultaneously due to the complex SV signatures implied by noisy long reads. We prop
Genome structural variants (SVs) have great impacts on human phenotype and diversity, and have been linked to numerous diseases. Long-read sequencing technologies arise to make it possible to find SVs of as long as 10,000 nucleotides. Thus, long read-based SV detection has been drawing attentio...
In this study, we conducted whole-genome sequencing (WGS) at 55-65X coverage utilizing the PacBio long-read sequencing platform in SiHa and HeLa cells, followed by comprehensive analyses of the sequence data to elucidate the complexity of HPV integration. Firstly, our results demonstrated that Pac...