Long-Read DNA Sequencing: Recent Advances and Remaining Challenges

Initial sequencing and analysis of the human genome

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A global reference for human genetic variation

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Tandem repeats finder: a program to analyze DNA sequences

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Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

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A map of human genome variation from population-scale sequencing.

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Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

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The complete sequence of a human genome

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DNA methylation: roles in mammalian development

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Opportunities and challenges in long-read sequencing data analysis

Amarasinghe, S. L., Su, S., Dong, X., Zappia, L., Ritchie, M. E., & Gouil, Q. (2020) · Genome Biology · doi:10.1186/s13059-020-1935-5 · Cited by 2,530 · see citing works

Nanopore sequencing and assembly of a human genome with ultra-long reads

Jain, M., Koren, S., Miga, K. H., Quick, J., Rand, A. C., Sasani, T. A., Tyson, J. R., Beggs, A. D., Dilthey, A. T., Fiddes, I. T., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4060 · Cited by 1,892 · see citing works

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Wenger, A. M., Peluso, P., Rowell, W. J., Chang, P.-C., Hall, R. J., Concepcion, G. T., Ebler, J., Fungtammasan, A., Kolesnikov, A., Olson, N. D., et al. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0217-9 · Cited by 1,841 · see citing works

Nanopore sequencing technology, bioinformatics and applications

Wang, Y., Zhao, Y., Bollas, A. E., Wang, Y., & Au, K. F. (2021) · Nature Biotechnology · doi:10.1038/s41587-021-01108-x · Cited by 1,756 · see citing works

An efficient targeted nuclease strategy for high-resolution mapping of DNA binding sites

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The Missing Diversity in Human Genetic Studies

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Direct detection of DNA methylation during single-molecule, real-time sequencing

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Recent Segmental Duplications in the Human Genome

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The Database of Genomic Variants: a curated collection of structural variation in the human genome

MacDonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L., & Scherer, S. W. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt958 · Cited by 1,346 · see citing works

Long-read human genome sequencing and its applications

Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0236-x · Cited by 1,222 · see citing works

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

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Mapping copy number variation by population-scale genome sequencing

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Mapping and sequencing of structural variation from eight human genomes

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Detecting DNA cytosine methylation using nanopore sequencing

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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

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Interspersed repeats and other mementos of transposable elements in mammalian genomes

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Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08148-z · Cited by 891 · see citing works

Variation graph toolkit improves read mapping by representing genetic variation in the reference

Garrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4227 · Cited by 821 · see citing works

Extensive sequencing of seven human genomes to characterize benchmark reference materials

Zook, J. M., Catoe, D., McDaniel, J., Vang, L., Spies, N., Sidow, A., Weng, Z., Liu, Y., Mason, C. E., Alexander, N., et al. (2016) · Scientific Data · doi:10.1038/sdata.2016.25 · Cited by 811 · see citing works

Resolving the complexity of the human genome using single-molecule sequencing

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Telomere-to-telomere assembly of a complete human X chromosome

Miga, K. H., Koren, S., Rhie, A., Vollger, M. R., Gershman, A., Bzikadze, A., Brooks, S., Howe, E., Porubsky, D., Logsdon, G. A., et al. (2020) · Nature · doi:10.1038/s41586-020-2547-7 · Cited by 765 · see citing works

Refining analyses of copy number variation identifies specific genes associated with developmental delay

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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long readsPreprint

Nurk, S., Walenz, B. P., Rhie, A., Vollger, M. R., Logsdon, G. A., Grothe, R., Miga, K. H., Eichler, E. E., Phillippy, A. M., & Koren, S. (2020) · Genome Research · doi:10.1101/gr.263566.120 · Cited by 709 · see citing works

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science · doi:10.1126/science.abf7117 · Cited by 702 · see citing works

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy

Rang, F. J., Kloosterman, W. P., & de Ridder, J. (2018) · Genome biology · doi:10.1186/s13059-018-1462-9 · Cited by 673 · see citing works

Complete genomic and epigenetic maps of human centromeres

Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L., Ryabov, F. D., Shew, C. J., et al. (2022) · Science · doi:10.1126/science.abl4178 · Cited by 618 · see citing works

Centromeric chromatin exhibits a histone modification pattern that is distinct from both euchromatin and heterochromatin

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A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

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Mapping DNA methylation with high-throughput nanopore sequencing

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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

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The Human Pangenome Project: a global resource to map genomic diversity

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Characterizing the Major Structural Variant Alleles of the Human Genome

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Assembly and diploid architecture of an individual human genome via single-molecule technologies

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The case for epigenetic effects on centromere identity and function

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Integrative detection and analysis of structural variation in cancer genomes

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A complete reference genome improves analysis of human genetic variation

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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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Targeted nanopore sequencing with Cas9-guided adapter ligation

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A robust benchmark for detection of germline large deletions and insertions

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From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

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Discovery and genotyping of structural variation from long-read haploid genome sequence dataPreprint

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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 365 · see citing works

Genome-wide mapping of methylated adenine residues in pathogenic Escherichia coli using single-molecule real-time sequencing

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Segmental duplications and their variation in a complete human genome

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The structure, function and evolution of a complete human chromosome 8

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Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

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Epigenetic patterns in a complete human genome

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Double PIK3CA mutations in cis increase oncogenicity and sensitivity to PI3Kα inhibitors

Vasan, N., Razavi, P., Johnson, J. L., Shao, H., Shah, H., Antoine, A., Ladewig, E., Gorelick, A. N., Lin, T.-Y., Toska, E., et al. (2019) · Science · doi:10.1126/science.aaw9032 · Cited by 285 · see citing works

Inverted Repeat Structure of the Human Genome: The X-Chromosome Contains a Preponderance of Large, Highly Homologous Inverted Repeats That Contain Testes GenesPreprint

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Single-molecule regulatory architectures captured by chromatin fiber sequencing

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Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Merker, J. D., Wenger, A. M., Sneddon, T. P., Grove, M. E., Zappala, Z., Frésard, L., Waggott, D. M., Utiramerur, S., Hou, Y., Smith, K. S., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.86 · Cited by 253 · see citing works

Mechanism of origin of complete hydatidiform moles

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Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

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GraphAligner: rapid and versatile sequence-to-graph alignment

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Centromere reference models for human chromosomes X and Y satellite arraysPreprint

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Targeted long-read sequencing identifies missing disease-causing variation

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Linear assembly of a human centromere on the Y chromosome

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Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing

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Semi-automated assembly of high-quality diploid human reference genomes

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Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing

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An assessment of the sequence gaps: Unfinished business in a finished human genome

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Latest techniques to study DNA methylation

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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

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Analysis of the largest tandemly repeated DNA families in the human genome

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HLA Typing for the Next Generation

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The evolution and population diversity of human-specific segmental duplications

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Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

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Real-time single-molecule electronic DNA sequencing by synthesis using polymer-tagged nucleotides on a nanopore array

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Genome maps across 26 human populations reveal population-specific patterns of structural variation

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EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps

Wang, X., Luan, Y., & Yue, F. (2022) · Science Advances · doi:10.1126/sciadv.abn9215 · Cited by 148 · see citing works

Capturing pairwise and multi-way chromosomal conformations using chromosomal walks

Olivares‐Chauvet, P., Mukamel, Z., Lifshitz, A., Schwartzman, O., Elkayam, N. O., Lubling, Y., Deikus, G. Y., Sebra, R., & Tanay, A. (2016) · Nature · doi:10.1038/nature20158 · Cited by 141 · see citing works

Genome-wide detection of cytosine methylation by single molecule real-time sequencing

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Targeted profiling of human extrachromosomal DNA by CRISPR-CATCH

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Accurate targeted long-read DNA methylation and hydroxymethylation sequencing with TAPS

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Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

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Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

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Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

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Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing

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Long and Accurate: How HiFi Sequencing is Transforming Genomics

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A Robust and Efficient Representation‐based DNA Storage Architecture by Deep Learning

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Clinical Cytogenetics: Current Practices and Beyond

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Can long-read sequencing tackle the barriers, which the next-generation could not? A review

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Long-read sequencing improves diagnostic rate in neuromuscular disorders.

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Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

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The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations

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Advances in forensic genetics: Exploring the potential of long read sequencing.

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HEK-omics: The promise of omics to optimize HEK293 for recombinant adeno-associated virus (rAAV) gene therapy manufacturing

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Nanopore adaptive sampling to identify the NLR gene family in melon (Cucumis melo L.)

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Rapid, accurate long- and short-read mapping to large pangenome graphs with vg GiraffePreprint

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Detection of hemophilia A genetic variants using third-generation long-read sequencing

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Considering Biomarkers of Neurodegeneration in Alzheimer’s Disease: The Potential of Circulating Cell-Free DNA in Precision Neurology

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Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies

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The promising role of nanopore sequencing in cancer diagnostics and treatment

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Advances in molecular tools for parasitic nematodes of animals – From genetic markers to metabarcoding and genomics

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Chromosome-scale genome assembly and annotation of Paspalum notatum Flüggé var. saurae

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Single chromatin fiber profiling and nucleosome position mapping in the human brain

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Complex and Non-sequential Current Signatures of a β-Hairpin Peptide Confined in a Nanopore

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Chromoplexy: A Pathway to Genomic Complexity and Cancer Development

Pellestor, F., Ganne, B., Gaillard, J. B., & Gâtinois, V. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26083826 · Cited by 7 · see citing works

Nanopore sequencing in veterinary medicine: from concepts to clinical applications

Chaves, M., Hashish, A., Goraichuk, I. V., Caserta, L. C., Mears, M. C., Gadu, E., Bakre, A. A., Morris, E. R. A., Shelkamy, M. M. S., Nadendla, S., et al. (2025) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2025.1701570 · Cited by 8 · see citing works

Decoding complexity: The role of long-read sequencing in unraveling genetic disease etiologies

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The clinical application and challenges of preimplantation genetic testing

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Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer

Takamatsu, S., Li, J., Welte, T., Khlebus, E., Vuttaradhi, V. K., Brodsky, A. L., Lawson, B. C., & Hillman, R. T. (2025) · Scientific Reports · doi:10.1038/s41598-025-21907-5 · Cited by 7 · see citing works

Novel screening of molecular markers reveals genetic basis for heterosis in hybrids from red crucian carp and white crucian carp

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Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders

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Bioinformatics and AI/ML approaches using multi-omics data to accelerate diagnosis and delivery of precision care for patients with rare diseases

Singh, K., Usman, S., Zeeshan, S., Yanamala, N. V. K., Nichols, M., Bhise, V. V., Bokhari, S., Sengupta, P. P., & Ahmed, Z. (2025) · Methods in cell biology · doi:10.1016/bs.mcb.2025.03.018 · Cited by 5 · see citing works

INNSE: Invertible neural network-based DNA image storage with self-correction encoding

Zheng, Y., Zhang, X., Sun, L., Cao, B., Wang, B., Zhang, Q., & Zheng, P. (2025) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2025.06.003 · Cited by 6 · see citing works

Non‐invasive reconstruction of complete mitochondrial genomes from aquatic environmental DNA using PCR‐free long‐read sequencing

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Deciphering new insights into copy number variations as drivers of genomic diversity and adaptation in farm animal species

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Nanopore Data-Driven Chromosome-Level Assembly of Flax Genome

Arkhipov, A. A., Pushkova, E. N., Bolsheva, N. L., Rozhmina, T. A., Владимировна, Б. Е., Zhernova, D. A., Рыбакова, Т., Barsukov, N., Moskalenko, O. D., Sigova, E. A., et al. (2024) · Plants · doi:10.3390/plants13243465 · Cited by 5 · see citing works

SCOTCH: isoform-level characterization of gene expression through long-read single-cell RNA sequencing

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Functional genomics in inborn errors of immunity

Hurabielle, C., LaFlam, T. N., Gearing, M., & Ye, C. (2024) · Immunological Reviews · doi:10.1111/imr.13309 · Cited by 6 · see citing works

Assessing a single-cell multi-omic analytic platform to characterize ex vivo-engineered T-cell therapy products

Moshref, M., Lo, J. H.-H., McKay, A. S., Camperi, J., Schroer, J., Ueno, N., Wang, S., Gulati, S., Tarighat, S. S., Durinck, S., et al. (2024) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2024.1417070 · Cited by 5 · see citing works

Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics

Lok, S., Lau, T. N. H., Trost, B., Tong, A. H. Y., Paton, T., Wintle, R. F., Engstrom, M. D., Gunn, A., & Scherer, S. W. (2024) · Scientific Reports · doi:10.1038/s41598-024-67270-9 · Cited by 4 · see citing works

Cost‐Effective and Highly Scalable Typing of HLA Classes I and II Genes of up to 96 Individuals Using Nanopore Sequencing

Pedersen, F. B., Hauge, A. W., Hansen, J., Andersen, L. S., Blomsterberg, S., & Brüünsgaard, H. (2025) · HLA · doi:10.1111/tan.70164 · Cited by 4 · see citing works

Variation of and associations with the depth and evenness of sequencing coverage in archived plastid genomes

Jenke, N., Smith, G. M., Magar, B. T., & Gruenstaeudl, M. (2025) · Scientific Reports · doi:10.1038/s41598-025-11568-9 · Cited by 4 · see citing works

Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro

Zuccaro, M. V., Young, R. E., Hu, J., Lanzano, P., Semenova, E., Lin, X., Skowronski, A. A., Shen, Y., Kim, T. H., Miller, D. E., et al. (2026) · Nature Communications · doi:10.1038/s41467-025-67752-y · Cited by 4 · see citing works

Population Diversity at the Single-Cell Level

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Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing

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Transgene Mapping in Animals: What to Choose?

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Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice

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MAC-ErrorReads: machine learning-assisted classifier for filtering erroneous NGS reads

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Chromosome-level genome assembly and annotation of the social amoeba Dictyostelium firmibasis

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The Human Respiratory Virome in Health and Disease: Interactions, Dysbiosis, and Methodological Challenges

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How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know

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The roles of transposable elements and gene family dynamics in shaping diversity and evolution in diatoms

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Expanding Upon Genomics in Rare Diseases: Epigenomic Insights

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Nanopore sequencing of protozoa: Decoding biological information on a string of biochemical molecules into human-readable signals

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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

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Topsicle: a method for estimating telomere length from whole genome long-read sequencing data

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The Role of Nucleotide Sequencing in Natural Product Drug Discovery

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Custom barcoded primers for influenza A nanopore sequencing: enhanced performance with reduced preparation time

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Benchmarking Ploidy Estimation Methods for Bulk and Single‐Cell Whole Genome Sequencing

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The Human Immunoglobulin Heavy Chain Constant Gene Locus is Enriched for Large Complex Structural Variants and Coding Polymorphisms that Vary in Frequency Among Human PopulationsPreprint

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Comprehensive Analysis of the Genetic Variation in the LPA Gene from Short-Read Sequencing

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Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations

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Improved approaches to genotyping MAOA-uVNTR polymorphisms with novel allele discovery

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Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3

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Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia

Tejero, E., Ramı́rez, M. J., Pujol, R. M., Bogliolo, M., Rodríguez‐Santiago, B., & Surrallés, J. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03928-5 · Cited by 2 · see citing works

Identification and genome insights into Pyrenochaeta nobilis, a novel endophytic fungus isolated from Astragalus membranaceus with gray mold-control activity

Yang, F., Wang, S., Jiang, X., Du, H., Liu, Y. X., Zhou, Y., & Liu, C. (2025) · Frontiers in Plant Science · doi:10.3389/fpls.2025.1610287 · Cited by 2 · see citing works

Past, present, and future of genomic technologies in cerebellar ataxias

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Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow

Jamshidi, J., Rowntree, C., Fadaee, S. B., Zhang, F., Zhu, Y., Buckley, M. F., Hart, F., & Roscioli, T. (2025) · BMC Medical Genomics · doi:10.1186/s12920-025-02251-z · Cited by 2 · see citing works

Mitochondrial genome assembly of the Peruvian Paso horse through PacBio long-read sequencing

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Nanopore direct RNA sequencing for RNA modification analysis: workflow assessment and computational tool benchmarking

Wu, Z., Li, J., Xia, R., Dai, J., Su, J., Meng, J., & Zhang, Y. (2026) · Advanced Biotechnology · doi:10.1007/s44307-025-00093-5 · Cited by 2 · see citing works

Population-scale genomic medicine with the Hong Kong Genome Project

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Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A

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Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

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The advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy

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A Strategy for Single-Run Sequencing of the Water Buffalo Genome: (I) the Use of Third-Generation Technology to Quickly Produce Long, High-Quality Reads

Maggio, F. D., Nunziato, M., Toscano, E., Sepe, L., Cimmino, R., Capolongo, E. A., Vasco, A., Paolella, G., & Salvatore, F. (2025) · Animals · doi:10.3390/ani15202991 · Cited by 2 · see citing works

Navigating the Maze of Maize Genomics: The Impact of Transposable Elements and Tandem RepeatsPreprint

Heringer, P., Benson, C. W., & Ou, S. (2024) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top108441 · Cited by 2 · see citing works

Powering Up Plant Genetic Research with Genomic Data 2.0

Li, M., Isobe, S., & Lam, H. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094052 · Cited by 2 · see citing works

Assessment of the functionality and usability of open-source rare variant analysis pipelines

Riccio, C., Jansen, M. L., Sandberg, F., Koliopanos, G., Link, V., & Ziegler, A. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbaf044 · Cited by 1 · see citing works

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies

Rodilla, C., Núñez‐Moreno, G., Benítez, Y., de Alba, M. R., Blanco‐Kelly, F., López-Alcojor, A., Fernández‐Caballero, L., Perea‐Romero, I., Pozo‐Valero, M. D., García‐García, G., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26083825 · Cited by 1 · see citing works

Combining panel-based and whole-transcriptome-based gene fusion detection by long-read sequencing

Rybacki, K., Feng, X., Deutsch, H. M., Ahsan, M. U., Chan, J., Liang, Z., Song, Y., Li, M. M., & Wang, K. (2025) · Cell Reports Methods · doi:10.1016/j.crmeth.2025.101111 · Cited by 1 · see citing works

The Potential Role of Haploblocks in the Persistence of Small, Isolated Populations of Brook Trout ( Salvelinus fontinalis )

Nemeczek, C., Delgado, M. L., Smith, M. E., MacMillan, J. L., Wyngaarden, M. V., & Ruzzante, D. E. (2025) · Ecology and Evolution · doi:10.1002/ece3.72075 · Cited by 1 · see citing works

Nanopore-based Single-molecule DNA Sequencing★

Bai, H., Tan, H., & Feng, J. (2025) · 化学学报 · doi:10.6023/a25050179 · Cited by 1 · see citing works

Structural variation drives enhancer hijacking via 3D genome disruption in ccRCC

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Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review

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From variants to answers: The evolution of genetic counseling in IEI

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Genetic analysis of neurodegenerative diseases

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Broken and Reassembled: The Molecular Mechanisms and Clinical Consequences of Structural Genomic Variation

Ullah, M. F. (2026) · Molecular Syndromology · doi:10.1159/000552262 · Cited by 1 · see citing works

Application of AI in Genomics

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Genomics in the long-read sequencing era

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Long-read human genome sequencing and its applications

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The impact of long-read sequencing on human population-scale genomicsPreprint

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Deciphering the Structural Variants by Long-Read Genome Sequencing: Technology, Applications, and Case Illustrations

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