Long-read sequencing can help resolve challenging regions of the genome, detect complex structural variants, and facilitate de novo assembly.
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...
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 thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven ...
Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result of the fact that many genetic variants ar...
“HiFi long read sequencing can now produce the most comprehensive variant dataset obtainable by a single technology in a single laboratory, allowing accurate calling of substitutions, indels, STRs and SVs.” –Kucuk et al., Genome Med, 2023 ...
The utility of long-read genome sequencing platforms has been shown in many fields including whole genome assembly, metagenomics, and amplicon sequencing. Less clear is the applicability of long reads to reference-guided human genomics, which is the foundation of genomic medicine. Here,...
第一个完整的人类基因组完成测序,完成这项工作最重要的技术之一就是长读长测序,这是产生端粒到端粒(Telomere-to-Telomere,T2T)数据的主要测序技术。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。
Sentieon | 每周文献-Long Read Sequencing(长读长测序)-第七期,研究者通过将PacBio长读长数据进行组装后对基因组进行repeat和gene注释。然后,利用测序或者从公开发表文献中下载的棉花基因组数据进行比对、变异检测、联合基因分型对亚洲栽培棉和非洲亚种进行比较。此过
Long-read sequencing (LRS) has become increasingly popular due to its strengths inde novoassembly and in resolving complex DNA regions as well as in determining full-length RNA molecules. Two important LRS technologies have been developed during the past few years, includingsingle-molecule, real-ti...
DNA sequencing This article is cited by Leaf: an ultrafast filter for population-scale long-read SV detection Chenxu Pan Knut Reinert Genome Biology(2024) Towards routine chromosome-scale haplotype-resolved reconstruction in cancer genomics Shilpa Garg ...