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Opportunities and challenges in long-read sequencing data analysis
Open accessAbstract
Long-read technologies are overcoming early limitations in accuracy and throughput, broadening their application domains in genomics. Dedicated analysis tools that take into account the characteristics of long-read data are thus required, but the fast pace of development of such tools can be overwhelming. To assist in the design and analysis of long-read sequencing projects, we review the current landscape of available tools and present an online interactive database, long-read-tools.org, to facilitate their browsing. We further focus on the principles of error correction, base modification detection, and long-read transcriptomics analysis and highlight the challenges that remain.
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“Conventional single-cell transcriptomics assays capture information at the gene level, thereby missing much of the biological diversity and regulatory mechanisms that occurs at the isoform level.30”
From hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data (2023) · cites this paper as [30]
Experimental — accuracy not yet measuredIn the citing paper
“Although there exist batch-effect correction methods, it's still challenging to distinguish true biological diversity from technical differences and thus preserve important biological variations 13 .”
From scBERT as a Large-scale Pretrained Deep Language Model for Cell Type Annotation of Single-cell RNA-seq Data (2021) · cites this paper as [13]
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Metadata
- Authors
- Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q.
- Affiliations
- The University of Melbourne (AU)
- Corresponding author
- Gouil, Quentin
- Venue
- Genome Biology
- Published
- 2020-02-07
- Volume
- 21
- Issue
- 1
- Pages
- 30-30
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- PMC
- PMC7006217
- OpenAlex
- W3007172120
- Cited by
- 2,530
- References
- 167
- Citations by year
- 2026: 253 · 2025: 439 · 2024: 498 · 2023: 437 · 2022: 441 · 2021: 356 · 2020: 100
- FWCI
- 32.42
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome biology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- long-read sequencing, error correction, sequencing accuracy, sequencing throughput
- MeSH terms
- Whole Genome Sequencing, Data Science, Nanopore Sequencing, Animals, Humans, Genomics
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