ArticleAmerican journal of human genetics2021
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 1 of them a synthesis that pooled it.
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Who cites it
122 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Utilization of RT-PCR and Optical Genome Mapping in Acute Promyelocytic Leukemia with CrypticGenes · 2024Pooled it
- Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.The Journal of pathology · 2026Article
- Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.International journal of cancer · 2026Article
- Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non-Hodgkin lymphomas.British journal of haematology · 2026Article
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- PULPO: pipeline of understanding large-scale patterns of oncogenomic signatures.Bioinformatics (Oxford, England) · 2026Article
- The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.Molecular diagnosis & therapy · 2026Review
- Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.Journal of clinical immunology · 2026Article
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- [Application of optical genome mapping technology in the genetic diagnosis of a family with a cryptic complex chromosomal balanced translocations].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Article
- Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.Journal of translational medicine · 2026Article
- Article
- Cytogenetics in the genomics era: why karyotyping still matters.BMC medical genomics · 2026Review
- Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.European journal of medical research · 2026Article
- Discrepancies in the Detection ofDiseases (Basel, Switzerland) · 2026Article
- Editorial: Molecular diagnostics for cardiovascular rare disease.Frontiers in molecular biosciences · 2026Article
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- Array comparative genomic hybridisation in haematological malignancies: A comprehensive review.African journal of laboratory medicine · 2026Review
- Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping.Molecular therapy. Methods & clinical development · 2025Article
62 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Somatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of cytogenetic techniques, including karyotyping, FISH, and CNV microarrays. We hypothesize that the combination of these classical approaches could be replaced by optical genome mapping (OGM). Samples from 52 individuals with a clinical diagnosis of a hematological malignancy, divided into simple (<5 aberrations, n = 36) and complex (≥5 aberrations, n = 16) cases, were processed for OGM, reaching on average: 283-fold genome coverage. OGM called a total of 918 high-confidence SVs per sample, of which, on average, 13 were rare and >100 kb. In addition, on average, 73 CNVs were called per sample, of which six were >5 Mb. For the 36 simple cases, all clinically reported aberrations were detected, including deletions, insertions, inversions, aneuploidies, and translocations. For the 16 complex cases, results were largely concordant between standard-of-care and OGM, but OGM often revealed higher complexity than previously recognized. Detailed technical comparison with standard-of-care tests showed high analytical validity of OGM, resulting in a sensitivity of 100% and a positive predictive value of >80%. Importantly, OGM resulted in a more complete assessment than any previous single test and most likely reported the most accurate underlying genomic architecture (e.g., for complex translocations, chromoanagenesis, and marker chromosomes). In conclusion, the excellent concordance of OGM with diagnostic standard assays demonstrates its potential to replace classical cytogenetic tests as well as to rapidly map novel leukemia drivers.
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