Fig. 5

Autosome representation of cleft palate-affected piglets showing an unbalanced reciprocal translocation t (8,14). Note the red marks highlighting the partial monosomy of chromosome 8 and the partial trisomy of chromosome 14. The 18 porcine autosomes are depicted in the right half of the circle as grey bars, and the average sequence depth for the 500 kb windows of a sequenced affected piglet is shown in blue below. The left half of the circle displays a close-up view of chromosome 8 and 14. The sequence coverage plot is shown accordingly while the inner circular track shows the B allele frequencies (BAF) at genotyped SNVs of the affected piglet on chromosome 8 and 14 in dark-blue. Note the clusters of BAF around 0.33 and 0.66 in the distal 32 Mb of chromosome 14 indicating the trisomy, and the missing BAF of 0.5 in the proximal 25 Mb of chromosome 8 indicating the monosomy