Long-read sequencing can help resolve challenging regions of the genome, detect complex structural variants, and facilitate de novo assembly.
A comprehensive examination of three generations using Illumina short‐read whole‐genome sequencing (WGS) did not identify any causative variants. Subsequent WGS using Pacific Biosciences (PacBio) long‐read HiFi Circular Consensus Sequencing (CCS) revealed a heterozygous 27‐bp duplication in the poly...
The integration of HBV DNA into the human genome can disrupt its structure in hepatocellular carcinoma (HCC), but the complexity of HBV genomic integration remains elusive. Here we applied long-read sequencing to precisely elucidate the HBV integration pattern in the human hepatocellular genome. The...
approximately half of individuals with a suspected Mendelian condition remain without a precise molecular diagnosis after a complete clinical evaluation. The application of short-read whole-genome sequencing (SR WGS), while offering much more uniform coverage across the genome, has only modestly increased...
Long-read whole-genome analysis of human single cells Article Open access 24 August 2023 Main It is widely thought that short-read sequencing (SRS), which usually generates ≤150-bp reads, has limited sensitivity for mapping cancer structural variants (SVs; copy number (CN) alterations and rea...
Now, eight years later, researchers at the Stanford University School of Medicine have used a next-generation technology—long-read sequencing—to secure a diagnosis for Ramon. It's the first time long-read, whole-genomesequencing has been used in a clinical setting, the researchers report in ...
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...
“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 ...
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome Am. J. Med. Genet. A., 182 (2020), pp. 1143-1151 CrossrefView in ScopusGoogle Scholar 60 M. Lei, D. Liang, Y. Yang, S. Mitsuhashi, K. Katoh, N. Miyake, M.C....
然而,没有一种工具在所有指标上都表现良好,这突出了对长read的装配算法进行持续开发的必要性。 关键词: 组装,长读测序,牛津纳米孔技术,太平洋生物科学,微生物基因组学,标杆管理 Go to: Introduction Genome assembly is the computational process of using shotgun whole-genome sequencing data (reads) to reconstr...