ArticleBMC medical genomics2024
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHG · 2026Article
- A convolutional attention model classifies copy number variants from whole exome sequencing.Scientific reports · 2026Article
- Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.Human heredity · 2026Article
- Chromosomal Microarray: Still Relevant in NGS Era.Indian journal of pediatrics · 2026Article
- Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center ExperienceJournal of clinical research in pediatric endocrinology · 2025Article
- Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy.Turkish journal of medical sciences · 2025Article
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Authors and funding
9 authors.
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Abstract
Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs. The cohort underwent whole exome sequencing (WES) and clinical exome sequencing (CES). Using GATK-gCNV, we identified 12 pathogenic CNVs that correlated with their clinical findings and resulting in a diagnostic yield of 2.67%. Importantly, the study emphasizes the role of CNVs in the etiology of Mendelian disorders and highlights the value of exome sequencing-based CNV analysis in routine diagnostic processes.
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