Trial reportScientific reports2021
Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.
Trial report in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The trial behind it
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
13 citing papers in PubMed.
- A New Class of Pathogenic Non-Coding Variants in GLA.International journal of molecular sciences · 2026Article
- Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.Scientific reports · 2025Article
- An exploratory study on the application of nanopore sequencing for detecting Mycobacterium tuberculosis drug resistance in respiratory specimens.BMC pulmonary medicine · 2025Article
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.Human genomics · 2024Article
- Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms.International journal of molecular sciences · 2024Review
- [Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- Nanopore sequencing of PCR products enables multicopy gene family reconstruction.Computational and structural biotechnology journal · 2023Article
- Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.Bioengineering (Basel, Switzerland) · 2022Review
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.Orphanet journal of rare diseases · 2022Article
- Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence. We aimed to design and validate a method for sequencing the GLA gene using long-read Oxford Nanopore sequencing technology. Twelve Fabry patients were blindly analyzed, both by conventional Sanger sequence and by long-read sequencing of a 13 kb PCR amplicon. We used minimap2 to align the long-read data and Nanopolish and Sniffles to call variants. All the variants detected by Sanger (including a deep intronic variant) were also detected by long-read sequencing. One patient had a deletion that was not detected by Sanger sequencing but was detected by the new technology. Our long-read sequencing-based method was able to detect missense variants and an exonic deletion, with the added advantage of intronic analysis. It can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.
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