ArticleEuropean journal of human genetics : EJHG2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project.European journal of human genetics : EJHG · 2026Article
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.Journal of neuromuscular diseases · 2026Review
- TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome.European journal of human genetics : EJHG · 2026Article
- Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.Genetics in medicine open · 2026Article
- Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping.Molecular therapy. Methods & clinical development · 2025Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.Nature genetics · 2025Review
- A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions.NAR genomics and bioinformatics · 2025Article
- Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Nature medicine · 2025Article
- Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio.BMC genomics · 2025Article
- Identification of an elusiveFrontiers in allergy · 2025Article
- CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.BMC bioinformatics · 2024Article
- Summer reading in EJHG.European journal of human genetics : EJHG · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors.
Funding
Abstract
Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines and clinical decision support systems for exome sequencing (ES) tend to focus on small alterations such as single nucleotide variants (SNVs) and insertions-deletions shorter than 50 base pairs (indels). Additionally, detection and interpretation of large copy-number variants (CNVs) are frequently performed. However, detection of other types of SVs in ES data is hampered by the difficulty of identifying breakpoints in off-target (intergenic or intronic) regions, which makes robust identification of SVs challenging. In this paper, we demonstrate the utility of SV calling in ES resulting in a diagnostic yield of 0.4% (23 out of 5825 probands) for a large cohort of unsolved patients collected by the Solve-RD consortium. Remarkably, 8 out of 23 pathogenic SV were not found by comprehensive read-depth-based CNV analysis, resulting in a 0.13% increased diagnostic value.
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