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Figure 6 | BMC Bioinformatics

Figure 6

From: "GenotypeColour™": colour visualisation of SNPs and CNVs

Figure 6

Trio comparisons. A) Left-hand side: The portions of chromosomes 7 and 8 of the mother, father and child are displayed. The colour code is the same as that described for Figure 1. The height of the squares is proportional to the CN state. In the proband, a partial deletion of chromosome 8, characterized by the absence of heterozygous genotypes and squares of reduced height, is shown by an arrow. Right-hand side: The genotype comparisons between mother-son and father-son for all SNPs on chromosomes 6, 7 and 8 are displayed. SNPs with identical genotype between the samples are in black, those with one identical allele are in red and those with no identity are in yellow. The presence of yellow squares in the father-son comparison (yellow arrow), combined with the information on the CN state of the trio for the same SNPs (left-hand side, yellow arrow), indicates that the deleted portion of chromosome 8 in the child was of paternal origin. B) C), D) and E) The intensity values and the LOH of the proband chromosome 8 probes are displayed as reported by CNAG, CNAT4, dChip, and SNPscan, respectively.

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