An alternative model for assessing the contribution of CNVs to disease, which has been utilized particularly in the study of children with unexplained developmental disabilities and congenital anomalies, has been the reporting of case series from clinical laboratory testing. Most of these published studies have represented CNV data from single laboratories and were based on previous generation targeted array analysis using bacterial artificial chromosome (BAC) genomic clones.5 Compared to analysis of research cohorts of well-phenotyped patients, the amount and quality of phenotypic data associated with clinical laboratory referrals is often quite limited.
