ArticleMolecular genetics & genomic medicine2022
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 19 citations in OpenAlex.
- Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study.BMC pregnancy and childbirth · 2026Article
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.Frontiers in genetics · 2025Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Optical Genome Mapping Reveals Disruption of theGenes · 2024Article
- Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.Diagnostics (Basel, Switzerland) · 2024Article
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.Molecular genetics & genomic medicine · 2023Article
- Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA.Diagnostics (Basel, Switzerland) · 2023Review
- The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
- Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.Molecular cytogenetics · 2023Article
- Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.Molecular genetics & genomic medicine · 2022Article
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8 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundBalanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolution. Bionano optical genome mapping (OGM) developed in recent years can be used to analyze chromosomal abnormalities at a higher resolution, providing the possibility of more in-depth analyses of balanced chromosome translocations.
methodsTo evaluate the feasibility of OGM to detect chromosome balanced translocations, 10 genetic outpatients were collected and detected simultaneously by karyotype analysis, FISH, CNV-seq, and Bionano OGM in this study.
resultsThe results showed that the karyotypes of the patients were detected by karyotype analysis, FISH, and Bionano OGM, but one patient with karyotype t(Y,19) was not correctly detected by OGM. There were not find any chromosome abnormality by CNV-seq. More importantly, OGM allowed the location of the mutation to the gene level, which is important for aiding diagnoses, compared to karyotype analysis, and FISH.
conclusionsThis study shows that OGM can be a high adjunctive diagnostic method for detecting balanced chromosome translocations, but the accuracy and precision of OGM detecting mutations need to be gradually improved in telomere and centromere regions.
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