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Long-Read DNA Sequencing: Recent Advances and Remaining Challenges
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DNA sequencing has revolutionized medicine over recent decades. However, analysis of large structural variation and repetitive DNA, a hallmark of human genomes, has been limited by short-read technology, with read lengths of 100–300 bp. Long-read sequencing (LRS) permits routine sequencing of human DNA fragments tens to hundreds of kilobase pairs in size, using both real-time sequencing by synthesis and nanopore-based direct electronic sequencing. LRS permits analysis of large structural variation and haplotypic phasing in human genomes and has enabled the discovery and characterization of rare pathogenic structural variants and repeat expansions. It has also recently enabled the assembly of a complete, gapless human genome that includes previously intractable regions, such as highly repetitive centromeres and homologous acrocentric short arms. With the addition of protocols for targeted enrichment, direct epigenetic DNA modification detection, and long-range chromatin profiling, LRS promises to launch a new era of understanding of genetic diversity and pathogenic mutations in human populations.
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“The ability of long reads to span repetitive sequences and other difficult regions of the genome38 has enabled the present assembly to have a more complete representation of the coding genes, isoforms of these genes, and the elucidation of their genomic organization.”
From Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics (2024) · cites this paper as [38]
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Metadata
- Authors
- Warburton, P. E., & Sebra, R. P.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- ORCID
- Sebra, Robert P.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2023-08-25
- Volume
- 24
- Issue
- 1
- Pages
- 109-132
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W4366352255
- Cited by
- 163
- References
- 132
- Citations by year
- 2026: 43 · 2025: 76 · 2024: 40 · 2023: 4
- FWCI
- 4.46
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- long-read sequencing, structural variants, repetitive DNA, haplotype phasing, repeat expansion, human genome assembly, centromere, target enrichment, nanopore sequencing
- MeSH terms
- Base Sequence, DNA, Humans, Mutation, Repetitive Sequences, Nucleic Acid, Sequence Analysis, DNA
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