Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2024-09-30 DOI:10.1186/s12920-024-02015-1
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu
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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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基于外显子组测序的拷贝数变异分析在孟德尔疾病中的诊断率:临床应用。
下一代测序(NGS)与生物信息学工具的结合为拷贝数变异(CNVs)的检测带来了革命性的变化,而拷贝数变异与孟德尔疾病的出现有牵连。在这项研究中,我们评估了基于外显子测序的 CNV 分析对 449 例疑似孟德尔疾病患者的诊断率。我们的目的是评估这种最新方法的诊断率,并扩大基因内CNV的临床范围。这组患者接受了全外显子组测序(WES)和临床外显子组测序(CES)。我们利用 GATK-gCNV 鉴定出了 12 个致病性 CNV,这些 CNV 与临床发现相关,诊断率为 2.67%。重要的是,该研究强调了CNV在孟德尔疾病病因学中的作用,并突出了基于外显子组测序的CNV分析在常规诊断过程中的价值。
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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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