(Supplementary Table 12). In addition, our data show that even older, low-resolution microarray data afford discovery opportunities for CNVs that have not previously been detectable. Indeed, we successfully identified and confirmed dozens of small deletion events, several of which have plausible disease roles (e.g. TBX5 deletions and Holt-Oram syndrome), including many detected by only a single probe in the original microarray experiment. As the underlying raw data from diagnostic laboratories becomes released, prospectively, there will be great potential for finding additional exon-altering deletions. Further validation of these and other novel candidates will yield new insights into the specific phenotypes affected by the loss or gain of individual genes. While most arrays cannot robustly capture the small deletions we identified, such as those adjacent to exons of FGF9 and LYST (associated with Chediak-Higashi Syndrome), control screening using PCR or other targeted high-throughput assays may be used to follow-up individually interesting candidates (Supplementary Note).
