Fig. 4

Two CNV events found in the Dataset B population (diagnosed with intellectual disability) with R-GADA and calling of 8p23.1 inversion in the same population with invClust. Part A shows a subject from Dataset B having an interstitial gain on chromosome 7q. The black dots show the value of the LRR for each single SNP while the red points show the value of the BAF; placing at the top the ones corresponding to AA allele (with a value close to 1), at the middle the ones corresponding to AB allele (with a value around 0.5) and at the bottom the ones corresponding to BB allele (with a value close to 0). Part B shows another subject from the same Dataset B having a interstitial loss on chromosome 8p. Part C Shows the calling of the inversion 8p23.1 in the entry dataset. The three groups correspond to each genotype; being the blue points the individuals that contain the inversion in both alleles, the green corresponds to the heterozygous individuals and the red ones are the individuals without the inversion. The plot is obtained after performing a MDS reduction over the population. 2-D density curves indicate the probability of belonging to each genotype being the more closed circles the highest probability