American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
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DOI：
10.1097/gim.0b013e3182217a3a
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发表时间：
2011-07-01
影响因子：
8.8
通讯作者：
South, Sarah T.
中科院分区：
文献类型：
--
作者：
Kearney, Hutton M.;Thorland, Erik C.;South, Sarah T.
用于评估DNA拷贝数的基因组微阵列现在被推荐作为出生后评估智力残疾、自闭症谱系障碍和/或多种先天性异常的个人的第一级测试。这项技术的应用导致在人类基因组中发现了广泛的拷贝数变异，包括健康个体的多态变异和新的致病拷贝数失衡。为了协助临床实验室评估拷贝数变异，并促进基因组微阵列结果的解释和报告的一致性，美国医学遗传学学会制定了以下关于拷贝数变异的解释和报告的专业指南。这些指南主要适用于在出生后环境中检测到的构成拷贝数变异的评估。Genet Med 2011：13(7)：680-685。
Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting. Genet Med 2011:13(7):680-685.