Screening for the 220 kb deletion on chromosome 16p11.2 in GWAS data from additional cohorts was variously carried out using a Gaussian Mixture Model [49]; Circular Binary Segmentation [50], [51]; QuantiSNP [52]; PennCNV [53]; BeadStudio GT module (Illumina Inc); and Birdseed [54]. At least two independent methods were used for each cohort. Where DNA was available, GSV calls at this locus were confirmed and probands’ parents investigated by multiplex ligation-dependent probe amplification [55], using the oligonucleotide probe set previously described [10] (kind gift of I.S. Farooqi).
