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Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 more
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Transcript Identification Through Long-Read Sequencing

2021
RNA-seq using long-read sequencing, such as nanopore and SMRT (Single Molecule, Real-Time) sequencing, enabled the identification of the full-length structure of RNA molecules. Several tools for long-read RNA-seq were developed recently. In this section, we introduce an analytical pipeline of long-read RNA-seq for isoform identification and the ...
Masahide, Seki, Miho, Oka, Liu, Xu, Ayako, Suzuki, Yutaka, Suzuki   +4 more
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Genomics in the long-read sequencing era

Trends in Genetics, 2023
Long-read sequencing (LRS) technologies have provided extremely powerful tools to explore genomes. While in the early years these methods suffered technical limitations, they have recently made significant progress in terms of read length, throughput, and accuracy and bioinformatics tools have strongly improved.
Erwin L, van Dijk, Delphine, Naquin, Kévin, Gorrichon, Yan, Jaszczyszyn, Rania, Ouazahrou, Claude, Thermes, Céline, Hernandez   +6 more
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Long-read sequencing of new Drosophila genomes

Nature Reviews Genetics, 2021
Kim et al. present a drosophilid genome resource comprising 101 de novo genome assemblies from 93 drosophilid species obtained by nanopore sequencing.
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Assembling Plant Genomes with Long-Read Sequencing

2022
Continuous improvements in long-read sequencing allow us to tackle increasingly big and complex genomes. Here we present the principles of long-read genome assembly, taking Solanum pennellii nanopore sequencing as an example.
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Transcript Profiling Using Long-Read Sequencing Technologies

2018
RNA sequencing using next-generation sequencing (NGS, RNA-Seq) technologies is currently the standard approach for gene expression profiling, particularly for large-scale high-throughput studies. NGS technologies comprise short-read RNA-Seq (dominated by Illumina) and long-read RNA-Seq technologies provided by Pacific Bioscience (PacBio) and Oxford ...
Anthony, Bayega, Yu Chang, Wang, Spyros, Oikonomopoulos, Haig, Djambazian, Somayyeh, Fahiminiya, Jiannis, Ragoussis   +5 more
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Long-Read Single-Cell Sequencing Using scCOLOR-seq

2023
Single-cell sequencing allows for the measurement of sequence information from individual cells with next-generation sequencing (NGS). However, its application to third-generation sequencing platforms such as Oxford Nanopore has been challenging because of its lower basecalling accuracy.
Martin, Philpott, Udo, Oppermann, Adam P, Cribbs   +2 more
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Modeling Methylation Patterns with Long Read Sequencing Data

IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2018
Variation in cytosine methylation at CpG dinucleotides is often observed in genomic regions, and analysis typically focuses on estimating the proportion of methylated sites observed in a given region and comparing these levels across samples to determine association with conditions of interest.
Karlene Nicole Meyer, Michelle R. Lacey
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Profiling the epigenome using long-read sequencing

Nature Genetics
The advent of single-molecule, long-read sequencing (LRS) technologies by Oxford Nanopore Technologies and Pacific Biosciences has revolutionized genomics, transcriptomics and, more recently, epigenomics research. These technologies offer distinct advantages, including the direct detection of methylated DNA and simultaneous assessment of DNA sequences ...
Tianyuan Liu, Ana Conesa
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Long-read sequencing for rare human genetic diseases

Journal of Human Genetics, 2019
During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is
Satomi, Mitsuhashi, Naomichi, Matsumoto
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