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Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in Medicine ( IF 8.8 ) Pub Date : 2019-11-16 , DOI: 10.1038/s41436-019-0666-z
Lora J H Bean 1, 2 , Birgit Funke 3, 4 , Colleen M Carlston 5 , Jennifer L Gannon 6, 7 , Sibel Kantarci 8 , Bryan L Krock 9 , Shulin Zhang 10 , Pinar Bayrak-Toydemir 11, 12 ,
Affiliation  

Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene-disease association) and technical completeness (e.g., depth of coverage), standards that address technical and clinical aspects of gene panels are needed. This document serves as a technical standard for laboratories designing, offering, and reporting gene panel testing. Although these principles can apply to multiple indications for genetic testing, the primary focus is on diagnostic gene panels (as opposed to carrier screening or predictive testing) with emphasis on technical considerations for the specific genes being tested. This technical standard specifically addresses the impact of gene panel content on clinical sensitivity, specificity, and validity-in the context of gene evidence for contribution to and strength of evidence for gene-disease association-as well as technical considerations such as sequencing limitations, presence of pseudogenes/gene families, mosaicism, transcript choice, detection of copy-number variants, reporting, and disclosure of assay limitations.

中文翻译:

诊断基因测序面板:从设计到报告——美国医学遗传学和基因组学学院 (ACMG) 的技术标准。

基因测序 panel 是用于许多与遗传疾病相关的临床表现的强大诊断工具。DNA测序技术的进步使基因panel更加经济、灵活和高效。由于基因组中包含的基因在基因内容(例如,数量、纳入原因、基因-疾病关联的证据级别)和技术完整性(例如,覆盖深度)方面在实验室之间存在很大差异,因此解决技术和临床方面的标准需要基因组。本文件作为实验室设计、提供和报告基因组测试的技术标准。尽管这些原则可以适用于基因检测的多种适应症,主要关注点是诊断基因组(与载体筛选或预测测试相反),重点是对正在测试的特定基因的技术考虑。该技术标准专门讨论了基因组内容对临床敏感性、特异性和有效性的影响——在基因证据对基因疾病关联的贡献和证据强度的背景下——以及技术考虑因素,如测序限制、存在假基因/基因家族、嵌合体、转录本选择、拷贝数变异的检测、报告和分析限制的披露。
更新日期:2019-11-17
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