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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome

Fig. 2

Method used to make haploid and triploid calls in the 7q11.23 critical region. Panel (a) shows the probe intensity values (Log R Ratio; LRR) across the 7q11.23 locus for all participants. Note the increase in LRR in participants with known duplications (blues) and the decrease in LRR in participants with known deletions (oranges). Panel (b) shows the chromosomal locations of called duplications (blues) and deletions (oranges) in this region for all participants. Panels (c and d) show the B allele frequency for each 7q11.23 SNP for all participants with duplications (Panel (c), blue colors) or deletions (Panel (d), orange colors); black lines represent thresholds used to make genotype calls, and overlying letters represent genotypes. Varying shades of blue and orange represent individual participants

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BMC Medical Genetics

ISSN: 1471-2350

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