Pediatric Genetics, Ege University, Izmir, Turkey.
Department of Genetics, The Children Hospital of Philadelphia, Mitochondrial Medicine Frontier Program, Philadelphia, USA.
BMC Med Genomics. 2024 Sep 30;17(1):239. doi: 10.1186/s12920-024-02015-1.
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.
下一代测序（NGS）结合生物信息学工具，彻底改变了拷贝数变异（CNVs）的检测，这些变异与孟德尔疾病的出现有关。在这项研究中，我们评估了基于外显子组测序的 CNV 分析在 449 名疑似孟德尔疾病患者中的诊断效果。我们旨在评估这种最近使用的方法的诊断效果，并扩大基因内 CNVs 的临床谱。该队列接受了全外显子组测序（WES）和临床外显子组测序（CES）。使用 GATK-gCNV，我们鉴定出 12 个致病性 CNV，这些 CNV 与它们的临床发现相关，导致诊断效果达到 2.67%。重要的是，该研究强调了 CNVs 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。
Zotero 插件