ArticleThe Journal of molecular diagnostics : JMD2023
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
Article in The Journal of molecular diagnostics : JMD, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.JCEM case reports · 2026Article
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control.Molecular cytogenetics · 2026Article
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
- Method for Validation Multiplexed Droplet Digital PCR for the Detection of Copy Number Variants in Cultured Human Pluripotent Stem Cells.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Review
- What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer.Molecular cytogenetics · 2025Review
- Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders.European journal of human genetics : EJHG · 2025Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.Annals of hematology · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.Frontiers in genetics · 2025Article
- Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.Genome medicine · 2024Article
- Review
- Optical Genome Mapping for Cryptic Chromosomal Rearrangements Identification in Clinical Practice.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.Diagnostics (Basel, Switzerland) · 2024Article
- Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.Diagnostics (Basel, Switzerland) · 2023Article
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study compares optical genome mapping (OGM) performed at multiple sites with current standard-of-care (SOC) methods used in clinical cytogenetics. This study included 50 negative controls and 359 samples from individuals (patients) with suspected genetic conditions referred for cytogenetic testing. OGM was performed using the Saphyr system and Bionano Access software version 1.7. Structural variants, including copy number variants, aneuploidy, and regions of homozygosity, were detected and classified according to American College of Medical Genetics and Genomics guidelines. Repeated expansions in FMR1 and contractions in facioscapulohumeral dystrophy 1 were also analyzed. OGM results were compared with SOC for technical concordance, clinical classification concordance, intrasite and intersite reproducibility, and ability to provide additional, clinically relevant information. Across five testing sites, 98.8% (404/409) of samples yielded successful OGM data for analysis and interpretation. Overall, technical concordance for OGM to detect previously reported SOC results was 99.5% (399/401). The blinded analysis and variant classification agreement between SOC and OGM was 97.6% (364/373). Replicate analysis of 130 structural variations was 100% concordant. On the basis of this demonstration of the analytic validity and clinical utility of OGM by this multisite assessment, the authors recommend this technology as an alternative to existing SOC tests for rapid detection and diagnosis in postnatal constitutional disorders.
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