ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
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DOI：
10.1038/gim.2013.129
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发表时间：
2013-11-01
影响因子：
8.8
通讯作者：
Kearney, Hutton M.
中科院分区：
文献类型：
--
作者：
South, Sarah T.;Lee, Charles;Kearney, Hutton M.
微阵列方法，包括阵列比较基因组杂交和单核苷酸多态性检测阵列，被认为是评估与智力残疾、自闭症和多种先天性异常相关的失衡的合适的一级测试。该技术也适用于产前标本。为了帮助临床实验室验证微阵列方法对体质的应用，美国医学遗传学和基因组学学院制定了以下修订的专业标准和指南。
Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. This technology also has applicability in prenatal specimens. To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines.