ArticleFrontiers in genetics2023
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 17 citations in OpenAlex.
- Exploring Genomic Variability in the Mediterranean Buffalo Breed: A Step Towards Custom SNP Array.Animals : an open access journal from MDPI · 2026Article
- Review
- The role of Alu elements in causing BRCA1 structural variation and breast cancer susceptibility.Genes & genomics · 2026Review
- Diverse short tandem repeat sequences influence gene regulation in human populations.Genome biology · 2025Article
- Blended Length Genome Sequencing (blend-seq): Combining Short Reads with Low-Coverage Long Reads to Maximize Variant Discovery.bioRxiv : the preprint server for biology · 2025Article
- Barriers to clinical genetic testing in movement disorders.Current opinion in neurology · 2025Review
- Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.Diagnostics (Basel, Switzerland) · 2025Review
- Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025Article
- ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.International journal of molecular sciences · 2025Article
- The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.The Lancet regional health. Western Pacific · 2025Article
- Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.Frontiers in genetics · 2025Article
- A novel and accelerated method for integrated alignment and variant calling from short and long reads.Frontiers in bioinformatics · 2025Article
- Long-read sequencing for diagnosis of genetic myopathies.BMJ neurology open · 2025Review
- Whole genome sequencing, characterization and analysis of coronene degrading bacterial strain Halomonas elongata.PloS one · 2025Article
- The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.F&S reports · 2024Article
- Population health management genomic new-born screens and multi-omics intercepts.Frontiers in artificial intelligence · 2024Review
- Can long-read sequencing tackle the barriers, which the next-generation could not? A review.Pathology oncology research : POR · 2024Review
- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Technological advances in Next-Generation Sequencing dramatically increased clinical efficiency of genetic testing, allowing detection of a wide variety of variants, from single nucleotide events to large structural aberrations. Whole Genome Sequencing (WGS) has allowed exploration of areas of the genome that might not have been targeted by other approaches, such as intergenic regions. A single technique detecting all genetic variants at once is intended to expedite the diagnostic process while making it more comprehensive and efficient. Nevertheless, there are still several shortcomings that cannot be effectively addressed by short read sequencing, such as determination of the precise size of short tandem repeat (STR) expansions, phasing of potentially compound recessive variants, resolution of some structural variants and exact determination of their boundaries,
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