Cited by 168Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Long-Read DNA Sequencing: Recent Advances and Remaining Challenges

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Warburton, Peter E., Sebra, Robert P.·2023·Annual Review of Genomics and Human Genetics

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Abstract

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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Additional file 6 of Utility analyses of AVITI sequencing chemistry
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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
DOI: 10.1146/annurev-genom-101722-103045
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
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (unspecified)
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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Long-Read DNA Sequencing: Recent Advances and Remaining Challenges

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