Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
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DOI：
10.1038/s41436-021-01139-4
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发表时间：
2021-04-29
影响因子：
8.8
通讯作者：
Vincent, Lisa M.
中科院分区：
文献类型：
--
作者：
Rehder, Catherine;Bean, Lora J. H.;Vincent, Lisa M.
下一代测序（NGS）技术现已在临床实验室中确立为基因组医学的主要检测模式。这些技术将大规模测序的成本降低了几个数量级。现在，通过疾病靶向基因组、外显子组测序或基因组测序来分析个体以帮助诊断各种临床情况是具有成本效益的。虽然NGS在许多环境中的临床验证和使用已经建立，但随着技术和相关信息学的发展，仍存在持续的挑战。为了协助临床实验室验证NGS方法和平台、持续监测NGS检测以确保质量结果，以及解释和报告使用这些技术发现的变体，美国医学遗传学和基因组学学院（ACMG）制定了以下技术标准。
Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now cost-effective to analyze an individual with disease-targeted gene panels, exome sequencing, or genome sequencing to assist in the diagnosis of a wide array of clinical scenarios. While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve. To assist clinical laboratories with the validation of NGS methods and platforms, the ongoing monitoring of NGS testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics (ACMG) has developed the following technical standards.