Our study sample included 788 subject-mother-father trios with confirmed parentage. DNA from all subjects was derived from whole blood. Details of the subjects are described in the Supplemental Experimental Procedures (available online). Diagnoses of subjects included bipolar disorder (n = 185, including 107 with an age at onset ≤ 18), schizophrenia (n = 177), and healthy controls (n = 426). While the primary disease focus of this study was BD, the inclusion of an additional schizophrenia cohort served first to replicate the one previous study of de novo CNVs in SCZ (Xu et al., 2008) and second to enable a valid comparison of patterns of de novo CNVs in BD with another disorder. In addition, a small set of autism spectrum disorder (ASD) trios (n = 45), all of which had been included in a previous study (Sebat et al., 2007) and three of which carried known de novo CNVs, were included as a “positive control” to confirm the sensitivity of our methods for detecting de novo events.
