Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

IF 5.3 2区 生物学 Q2 CELL BIOLOGY Journal of Molecular Cell Biology Pub Date : 2023-11-27 DOI:10.1093/jmcb/mjad040
Hairong Yu, Haoyong Yu, Rong Zhang, Danfeng Peng, Dandan Yan, Yunjuan Gu, Yuqian Bao, Weiping Jia, Hong Zhang, Cheng Hu
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Abstract

A small fraction of patients diagnosed with obesity or diabetes mellitus has an underlying monogenic cause. Here, we constructed a targeted gene panel consisting of 83 genes reported to be causative for monogenic obesity or diabetes. We performed this panel in 481 patients to detect causative variants and compared these results with whole-exome sequencing (WES) data available for 146 of these patients. The coverage of targeted gene panel sequencing was significantly higher than that of WES. The diagnostic yield in patients sequenced by the panel was 32.9% with subsequent WES leading to three additional diagnoses with two novel genes. In total, 178 variants in 83 genes were detected in 146 patients by targeted sequencing. Three of the 178 variants were missed by WES, although the WES-only approach had a similar diagnostic yield. For the 335 samples only receiving targeted sequencing, the diagnostic yield was 32.2%. In conclusion, taking into account the lower costs, shorter turnaround time, and higher quality of data, targeted sequencing is a more effective screening method for monogenic obesity and diabetes compared to WES. Therefore, this approach could be routinely established and used as a first-tier test in clinical practice for specific patients.

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在诊断肥胖症和糖尿病方面,靶向基因面板比全外显子组测序更具优势。
一小部分被诊断为肥胖症或糖尿病的患者有潜在的单基因病因。在这里,我们构建了一个靶向基因面板,该面板由 83 个据报道可导致单基因肥胖症或糖尿病的基因组成。我们对 481 例患者进行了该基因组检测,以发现致病变异,并将这些结果与其中 146 例患者的全外显子组测序(WES)数据进行了比较。靶向基因组测序的覆盖率明显高于全外显子组测序。经该基因组测序的患者的诊断率为 32.9%,而随后的 WES 测序又通过两个新基因确诊了三名患者。通过靶向测序,146 名患者共检测到 83 个基因中的 178 个变异。在这 178 个变异中,WES 漏检了 3 个,尽管仅 WES 方法的诊断率相似。仅接受靶向测序的 335 个样本的诊断率为 32.2%。总之,考虑到较低的成本、较短的周转时间和较高的数据质量,与 WES 相比,靶向测序是一种更有效的单基因肥胖症和糖尿病筛查方法。因此,在临床实践中,这种方法可以作为针对特定患者的第一级检测方法常规建立和使用。
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来源期刊
CiteScore
9.60
自引率
1.80%
发文量
1383
期刊介绍: The Journal of Molecular Cell Biology ( JMCB ) is a full open access, peer-reviewed online journal interested in inter-disciplinary studies at the cross-sections between molecular and cell biology as well as other disciplines of life sciences. The broad scope of JMCB reflects the merging of these life science disciplines such as stem cell research, signaling, genetics, epigenetics, genomics, development, immunology, cancer biology, molecular pathogenesis, neuroscience, and systems biology. The journal will publish primary research papers with findings of unusual significance and broad scientific interest. Review articles, letters and commentary on timely issues are also welcome. JMCB features an outstanding Editorial Board, which will serve as scientific advisors to the journal and provide strategic guidance for the development of the journal. By selecting only the best papers for publication, JMCB will provide a first rate publishing forum for scientists all over the world.
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