ReviewDiagnostics (Basel, Switzerland)2023
Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA.
Review in Diagnostics (Basel, Switzerland), 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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Who cites it
18 citing papers in PubMed.
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors.The Journal of molecular diagnostics : JMD · 2026Article
- Optical genome mapping as a high-resolution tool for uncovering cytogenetic complex and cryptic alterations in a cohort of patients with MDS and AML.NPJ precision oncology · 2026Article
- Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis.BMC cancer · 2025Article
- Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia.Cancers · 2025Article
- The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia.Cancers · 2025Review
- [Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Optical Genome Mapping as a New Approach to Detecting Cytogenetic Abnormalities: Why Is It Difficult in Multiple Myeloma?Turkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.The Journal of clinical investigation · 2025Article
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- Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report.Balkan journal of medical genetics : BJMG · 2024Article
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping.Cancer science · 2024Review
- Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Genomic technologies for detecting structural variations in hematologic malignancies.Blood research · 2024Review
- Optical Genome Mapping: A Machine-Based Platform in Cytogenomics.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Analytic Validation of Optical Genome Mapping in Hematological Malignancies.Biomedicines · 2023Article
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Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Optical genome mapping (OGM) is a new genome-wide technology that can reveal both structural genomic variations (SVs) and copy number variations (CNVs) in a single assay. OGM was initially employed to perform genome assembly and genome research, but it is now more widely used to study chromosome aberrations in genetic disorders and in human cancer. One of the most useful OGM applications is in hematological malignancies, where chromosomal rearrangements are frequent and conventional cytogenetic analysis alone is insufficient, necessitating further confirmation using ancillary techniques such as fluorescence in situ hybridization, chromosomal microarrays, or multiple ligation-dependent probe amplification. The first studies tested OGM efficiency and sensitivity for SV and CNV detection, comparing heterogeneous groups of lymphoid and myeloid hematological sample data with those obtained using standard cytogenetic diagnostic tests. Most of the work based on this innovative technology was focused on myelodysplastic syndromes (MDSs), acute myeloid leukemia (AML), and acute lymphoblastic leukemia (ALL), whereas little attention was paid to chronic lymphocytic leukemia (CLL) or multiple myeloma (MM), and none was paid to lymphomas. The studies showed that OGM can now be considered as a highly reliable method, concordant with standard cytogenetic techniques but able to detect novel clinically significant SVs, thus allowing better patient classification, prognostic stratification, and therapeutic choices in hematological malignancies.
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