Abstract
Genomic microarray analysis has been widely implemented in clinical laboratories for postnatal diagnosis of developmental delay, congenital anomalies and/or autism, and is quickly being adopted in the prenatal setting for fetuses with abnormal ultrasound findings. In comparison to karyotype analysis, the previous gold standard test, there has been a major increase in the amount of data requiring clinical interpretation in clinical laboratories. Although there have been significant improvements in the technologies and algorithms used for detection of copy number variants (CNVs), the assessment of clinical significance has been challenging. However, recent years have shown the development of new databases and tools to aid clinical interpretation of rare CNVs. Here we review the frequently used tools and discuss the scientific literature for clinical interpretation of these variants.
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