Towards an evidence-based process for the clinical interpretation of copy number variation.
Towards an evidence-based process for the clinical interpretation of copy number variation.
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DOI：
10.1111/j.1399-0004.2011.01818.x
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发表时间：
2012-05
影响因子：
3.5
通讯作者：
Martin CL
中科院分区：
文献类型：
--
作者：
Riggs ER;Church DM;Hanson K;Horner VL;Kaminsky EB;Kuhn RM;Wain KE;Williams ES;Aradhya S;Kearney HM;Ledbetter DH;South ST;Thorland EC;Martin CL
循证审查(EBR)过程已被广泛用于制定医疗决策标准和探索复杂的临床问题。这种方法可以应用于基因测试，例如染色体微阵列，以帮助临床解释某些拷贝数变异(CNV)，特别是那些罕见的拷贝数变异，并指导阵列设计以实现最佳的临床应用。为了解决这些问题，细胞基因组阵列国际标准联盟成立了一个EBR工作组，负责建立一个框架，系统地评估整个基因组中CNV的潜在临床相关性。该小组开发了一种评级系统，列举了支持或反驳个别基因和区域剂量敏感性的证据，该系统考虑了以下标准：报告的致病突变数量；遗传模式；表型一致性；来自大规模病例对照研究的证据；突变机制；来自公共基因组变异数据库的数据；以及专家共识意见。该系统的设计是动态的，定期对区域进行重新评估，以纳入新出现的证据。收集的证据将在公开的数据库中展示，并可部分用于为临床实验室CNV解释提供信息，以及指导阵列设计。
The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To address these issues, the International Standards for Cytogenomic Arrays Consortium has established an EBR Work Group charged with building a framework to systematically assess the potential clinical relevance of CNVs throughout the genome. This group has developed a rating system enumerating the evidence supporting or refuting dosage sensitivity for individual genes and regions that considers the following criteria: number of causative mutations reported; patterns of inheritance; consistency of phenotype; evidence from large-scale case-control studies; mutational mechanisms; data from public genome variation databases; and expert consensus opinion. The system is designed to be dynamic in nature, with regions being reevaluated periodically to incorporate emerging evidence. The evidence collected will be displayed within a publically available database, and can be used in part to inform clinical laboratory CNV interpretations as well as to guide array design.
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影响因子：
64.8
作者：
Cook, Edwin H., Jr.;Scherer, Stephen W.
通讯作者：
Scherer, Stephen W.
影响因子：
64.8
作者：
EDERY, P;LYONNET, S;MUNNICH, A
通讯作者：
MUNNICH, A
影响因子：
30.8
作者：
Iafrate, AJ;Feuk, L;Lee, C
通讯作者：
Lee, C
影响因子：
4
作者：
Ishihara, N;Yamada, K;Wakamatsu, N
通讯作者：
Wakamatsu, N
人类基因组的结构变异：机制，测定和在男性不育症中的作用。
影响因子：
2.4
作者：
Carvalho CM;Zhang F;Lupski JR
通讯作者：
Lupski JR