ArticleFrontiers in genetics2019
Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.Bioinformatics (Oxford, England) · 2026Article
- Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.Scientific reports · 2025Article
- Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy.Scientific reports · 2025Article
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.International journal of molecular sciences · 2025Article
- Comprehensive analysis of off-target and on-target effects resulting from liver-directed CRISPR-Cas9-mediated gene targeting with AAV vectors.Molecular therapy. Methods & clinical development · 2024Article
- Analysis of Preimplantation and Clinical Outcomes of Two Cases by Oxford Nanopore Sequencing.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Optical Genome Mapping Reveals Disruption of theGenes · 2024Article
- Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.Scientific reports · 2024Article
- Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos.Clinical and translational medicine · 2024Article
- Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.Journal of medical genetics · 2024Article
- SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files.Frontiers in genetics · 2024Article
- Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.BMC genomics · 2023Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation ofMolecular syndromology · 2022Article
- Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.Molecular genetics & genomic medicine · 2022Article
- Chromosomal Translocations Detection in Cancer Cells Using Chromosomal Conformation Capture Data.Genes · 2022Article
- Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.Molecular genetics & genomic medicine · 2022Article
- Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.BMC genomics · 2022Article
- Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.Frontiers in genetics · 2022Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic structural variants, including translocations, inversions, insertions, deletions, and duplications, are challenging to be reliably detected by traditional genomic technologies. In particular, balanced translocations and inversions can neither be identified by microarrays since they do not alter chromosome copy numbers, nor by short-read sequencing because of the unmappability of short reads against repetitive genomic regions. The precise localization of breakpoints is vital for exploring genetic causes in patients with balanced translocations or inversions. Long-read sequencing techniques may detect these structural variants in a more direct, efficient, and accurate manner. Here, we performed whole-genome, long-read sequencing using the Oxford Nanopore GridION sequencer to detect breakpoints in six balanced chromosome translocation carriers and one inversion carrier. The results showed that all the breakpoints were consistent with the karyotype results with only ~10× coverage. Polymerase chain reaction (PCR) and Sanger sequencing confirmed 8 out of 14 breakpoints; however, other breakpoint loci were slightly missed since they were either in highly repetitive regions or pericentromeric regions. Some of the breakpoints interrupted normal gene structure, and in other cases, micro-deletions/insertions were found just next to the breakpoints. We also detected haplotypes around the breakpoint regions. Our results suggest that long-read, whole-genome sequencing is an ideal strategy for precisely localizing translocation breakpoints and providing haplotype information, which is essential for medical genetics and preimplantation genetic testing.
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