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首页> 美国卫生研究院文献>Journal of the Endocrine Society >SUN-721 Implementation of Whole Exome Sequencing for Clinical Diagnostics: A Prospective Busan Kyung-Sang Regional Co-Work Team Experience
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SUN-721 Implementation of Whole Exome Sequencing for Clinical Diagnostics: A Prospective Busan Kyung-Sang Regional Co-Work Team Experience

机译：Sun-721临床诊断的整体exome测序的实施方式：釜山京桑地区合作团队经验

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Purpose: Next Generation Sequencing (NGS) technology is a highthroughput method for genome sequencing which assists clinicians with diagnosis of patients with suspected genetic disorders. This study was to investigate diagnostic yield and clinical utility of whole exome sequencing prospectively in the rare genetic diseases. Method: WES was performed a total of 178 patients with suspected genetic disorder. Buccal swab samples were collected from the patients to extract genomic DNA. WES and variant interpretation was conducted in 3 Billion Inc (Seoul, Republic of Korea), based on their own software. Patients’ phenotype was interpreted by clinical geneticists. Results: WES reported 117 variants (66.7%). According to the ACMG/AMP guidelines, there were 25 pathogenic variants (14%), 37 likely pathogenic variants (32%), and 55 VUS (31%). Among the 117 patients who detected variants, genotype-phenotype correlation was analyzed and resulted that 44 (38%) were found to be apparently causal mutation of the disease, 37 (32%) were not considered the cause of the disease, and 36 (31%) were withheld judgement. Of the VUS variants, 13% were likely to be the causal variants of the disease considering phenotype of patients. Conclusion: This study showed 38% of diagnostic yield in patients with unidentified genetic condition by using prospective WES based on automating variant interpretation system. In the diagnosis of rare genetic disease, we identified the need for a multi-disciplinary team to select appropriate subjects and interpret the clinical significance of the found genetic variants.
机译：目的：下一代测序（NGS）技术是基因组测序的一个稳定性方法，其有助于临床医生诊断疑似遗传疾病的患者。本研究是在稀有遗传疾病中调查全面exome测序的诊断产量和临床效用。方法：在疑似遗传障碍中共进行178名患者。从患者中收集口腔拭子样品以提取基因组DNA。基于自己的软件，在30亿公司（首尔）进行了3亿股（首尔），以3亿公司（首尔共和国）进行。患者的表型被临床遗传学分子解释。结果：WES报告117种变种（66.7％）。根据ACMG / AMP指南，有25种致病变体（14％），37种可能的致病变体（32％）和55 vus（31％）。在检测到变体的117名患者中，分析了基因型 - 表型相关性，并导致44（38％）被发现是显然的疾病的因果突变，37例（32％）未被视为疾病的原因，36（ 31％）扣除判断。在VUS变体中，13％可能是考虑患者表型的疾病的因果变体。结论：本研究表明，通过使用基于自动化变体解释系统的前瞻性WES，展示了未识别的遗传条件患者诊断产量的38％。在诊断稀有遗传疾病中，我们确定了需要多学科团队选择适当的受试者，并解释发现遗传变异的临床意义。

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