Subjects ascertained for cognitive deficit/malformations with or without obesity were selected from those clinically referred for genetic testing; 16p11.2 deletions were identified in these individuals by standard clinical diagnostic procedures. Algorithmic analyses of GWAS data were variously carried out using the cnvHap algorithm; a moving window average intensity procedure; a Gaussian Mixture Model; QuantiSNP; PennCNV; BeadStudio GT module; and Birdseed. Where experimental validation was not possible, at least two independent algorithms were used for each dataset.
