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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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Advances in long-read single-cell transcriptomics
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Self-citationSivanandan, S., Leitmann, B., Lubeck, E., Sultan, M. M., Stanitsas, P., Ranu, N., Ewer, A., Mancuso, J. E., Phillips, Z. F., Kim, A. M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-66778-6 · Cited by 44
Long-read sequencing to understand genome biology and cell function
Kraft, F., & Kurth, I. (2020) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2020.105799 · Cited by 37
Tapping Into Actinobacterial Genomes for Natural Product Discovery
Singh, T. A., Passari, A. K., Jajoo, A., Bhasin, S., Gupta, V. K., Hashem, A., Alqarawi, A. A., & Allah, E. F. A. (2021) · Frontiers in Microbiology · doi:10.3389/fmicb.2021.655620 · Cited by 36
Wu, H.-Y., & Shaw, P. (2022) · Chinese Medicine · doi:10.1186/s13020-022-00590-y · Cited by 38
Simon, D. A., Tálas, A., Kulcsár, P. I., Biczók, Z., Krausz, S. L., Várady, G., & Welker, E. (2022) · eLife · doi:10.7554/elife.69504 · Cited by 35
Chen, J., Cheng, J., Chen, X., Inoue, M., Liu, Y., & Song, C. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac612 · Cited by 37
Highly accurate long reads are crucial for realizing the potential of biodiversity genomics
Hotaling, S., Wilcox, E. R., Heckenhauer, J., Stewart, R. J., & Frandsen, P. B. (2023) · BMC Genomics · doi:10.1186/s12864-023-09193-9 · Cited by 36
Query to reference single-cell integration with transfer learningPreprint
Lotfollahi, M., Naghipourfar, M., Luecken, M. D., Khajavi, M., Büttner, M., Avsec, Ž., Misharin, A. V., & Theis, F. J. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.16.205997 · Cited by 38
Lavrichenko, K., Johansson, S., & Jonassen, I. (2021) · BMC Genomics · doi:10.1186/s12864-021-08082-3 · Cited by 36
RODAN: a fully convolutional architecture for basecalling nanopore RNA sequencing data
Neumann, D., Reddy, A. S. N., & Ben‐Hur, A. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04686-y · Cited by 35
Baker, J. L. (2023) · FEMS Microbiology Reviews · doi:10.1093/femsre/fuad051 · Cited by 37
deMULTIplex2: robust sample demultiplexing for scRNA-seq
Zhu, Q., Conrad, D. N., & Gartner, Z. J. (2024) · Genome biology · doi:10.1186/s13059-024-03177-y · Cited by 32
Improvements in the sequencing and assembly of plant genomes
Sharma, P., Al‐Dossary, O., Alsubaie, B., Al‐Mssallem, I. S., Nath, O., Mitter, N., Margarido, G. R. A., Topp, B. L., Murigneux, V., Masouleh, A. K., et al. (2021) · Gigabyte · doi:10.46471/gigabyte.24 · Cited by 34
Brandes, N., Linial, N., & Linial, M. (2021) · Scientific Reports · doi:10.1038/s41598-021-94252-y · Cited by 33
Multi-Omics-Based Discovery of Plant Signaling Molecules
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Application of Nanopore Sequencing in the Detection of Foodborne Microorganisms
Zhou, Y. L., Ren, M., Zhang, P., Jiang, D., Yao, X., Luo, Y., Yang, Z., & Yin, W. (2022) · Nanomaterials · doi:10.3390/nano12091534 · Cited by 34
The Microbiome in Osteoarthritis: a Narrative Review of Recent Human and Animal Model Literature
Dunn, C. M., & Jeffries, M. A. (2022) · Current Rheumatology Reports · doi:10.1007/s11926-022-01066-6 · Cited by 36
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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