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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genetics in Medicine ( IF 8.8 ) Pub Date : 2019-11-06 , DOI: 10.1038/s41436-019-0686-8
Erin Rooney Riggs 1 , Erica F Andersen 2, 3 , Athena M Cherry 4 , Sibel Kantarci 5 , Hutton Kearney 6 , Ankita Patel 7 , Gordana Raca 8 , Deborah I Ritter 9 , Sarah T South 10 , Erik C Thorland 6 , Daniel Pineda-Alvarez 11 , Swaroop Aradhya 4, 11 , Christa Lese Martin 1
Affiliation  

PURPOSE Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been in widespread clinical use, tremendous strides have been made in understanding the effects of copy-number variants (CNVs) in both affected individuals and the general population. However, continued broad implementation of array and next-generation sequencing-based technologies will expand the types of CNVs encountered in the clinical setting, as well as our understanding of their impact on human health. METHODS To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the technology used to identify them, the American College of Medical Genetics and Genomics has developed the following professional standards in collaboration with the National Institutes of Health (NIH)-funded Clinical Genome Resource (ClinGen) project. RESULTS This update introduces a quantitative, evidence-based scoring framework; encourages the implementation of the five-tier classification system widely used in sequence variant classification; and recommends "uncoupling" the evidence-based classification of a variant from its potential implications for a particular individual. CONCLUSION These professional standards will guide the evaluation of constitutional CNVs and encourage consistency and transparency across clinical laboratories.

中文翻译:

解释和报告构成拷贝数变异的技术标准:美国医学遗传学和基因组学学院 (ACMG) 和临床基因组资源 (ClinGen) 的联合共识建议。

目的 建议使用拷贝数分析来检测整个基因组中导致疾病的损失和增益,以评估患有神经发育障碍和/或多种先天性异常的个体,以及患有超声异常的胎儿。在这种分析广泛应用于临床的十年中,在了解拷贝数变异 (CNV) 对受影响个体和普通人群的影响方面已经取得了巨大进步。然而,阵列和下一代测序技术的持续广泛实施将扩大临床环境中遇到的 CNV 类型,以及我们对其对人类健康影响的理解。方法 为了协助临床实验室对 CNV 进行分类和报告,无论使用何种技术来识别它们,美国医学遗传学和基因组学学院与美国国立卫生研究院 (NIH) 资助的临床实验室合作制定了以下专业标准基因组资源(ClinGen)项目。结果本次更新引入了定量的、基于证据的评分框架;鼓励实施广泛用于序列变异分类的五级分类系统;并建议将变异的基于证据的分类与其对特定个体的潜在影响“脱钩”。结论 这些专业标准将指导对构成性 CNV 的评估,并鼓励临床实验室之间的一致性和透明度。
更新日期:2019-11-05
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