Case Study
Utility of a Custom Microarray to Study Neurodevelopmental Disorders
Utility of a Custom Microarray to Study Neurodevelopmental Disorders Problem Early on Boston Children’s Hospital used Agilent catalog 244K whole genome CMA to study NDD. This led to the important discovery of novel NDD loci such as 16p11.2. However, after analyzing thousands of samples with whole genome CMA, it became clear that some regions of the genome were more relevant than others, both large genomic imbalances and small intragenic CNVs