Additional file 5 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Additional file 5: Table S4: Identifying 16p11.2 and 22q11.2 cases from electronic health records (EHR). Keyword searches across all documents within the Vanderbilt EHR were performed to identify individuals carrying 16p11.2 or 22q11.2 CNVs. Individuals with documents containing matching keywords were reviewed manually to confirm the presence of 16p11.2 or 22q11.2 CNV. Individuals were excluded from case groups if their records included a mention of additional CNVs. Individuals within the 16p11.2 case groups were also excluded if the size of the reported CNV was 200-250 kb. Individuals within the 22q11.2 case group were excluded if the size of the CNV was smaller than 500 kb or if there was a mention of “distal” when referring to the deletion or duplication. Confirmed case numbers are listed, with the non-genotyped counts in parentheses. Non-genotyped individuals were used for downstream phenome-wide analyses.