ArticleScientific reports2024
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Whole-genome resequencing identifies adaptive variation associated with complex terrain in southwestern Chinese ducks.Poultry science · 2026Article
- Article
- Integrative approach for delineating structural variants using optical genome mapping and long-read genome sequencing.Molecular biology reports · 2026Article
- Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.Journal of clinical immunology · 2026Article
- Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.Stem cell research & therapy · 2026Article
- Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.Human mutation · 2026Article
- Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay.Molecular cytogenetics · 2025Article
- A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.Diagnostics (Basel, Switzerland) · 2025Review
- Review
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- 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
- The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues.Case reports in pediatrics · 2025Article
- Identification and Characterization of Chromothripsis by Optical Genome Mapping.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Review
- Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.Genome medicine · 2024Article
- Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.Frontiers in genetics · 2024Article
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13 authors.
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Abstract
While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Optical genome mapping (OGM) is an innovative technique capable of capturing SVs that are undetectable or challenging-to-detect via short-read methods. This study aimed to investigate NDDs using OGM, specifically focusing on cases that remained unsolved after standard exome sequencing. OGM was performed in 47 families using ultra-high molecular weight DNA. Single-molecule maps were assembled de novo, followed by SV and copy number variant calling. We identified 7 variants of interest, of which 5 (10.6%) were classified as likely pathogenic or pathogenic, located in BCL11A, OPHN1, PHF8, SON, and NFIA. We also identified an inversion disrupting NAALADL2, a gene which previously was found to harbor complex rearrangements in two NDD cases. Variants in known NDD genes or candidate variants of interest missed by exome sequencing mainly consisted of larger insertions (> 1kbp), inversions, and deletions/duplications of a low number of exons (1-4 exons). In conclusion, in addition to improving molecular diagnosis in NDDs, this technique may also reveal novel NDD genes which may harbor complex SVs often missed by standard sequencing techniques.
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