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Figure 4 | BMC Medical Genomics

Figure 4

From: Allele-specific disparity in breast cancer

Figure 4

Three SNPs with high levels of allelic disparity. Panel (A) illustrates the B allele frequency for rs325349 in blood for all samples (A = 99, AG = 12 and G = 1) on chromosome 5 located in CDH9. Out of the 12 samples scored as AG in the blood, Panel (B). Black dash lines show the arbitrary thresholds for AA (major allele, A), AB (AG) and BB (minor allele, G) regions, and red dash lines are the real thresholds of heterozygous. Only one sample is left; 91.7 percent (n = 11) of heterozygous samples show disparity in tumour and all shifted toward major allele (A). Panel (C) shows the same information for SNP, rs543304 on chromosome 13 located in BRCA2 for blood (A = 70, AG = 34, and G = 8), and panel (D) shows this information for tumour; 81.8 percent of heterozygous samples (n = 8) shifted toward minor allele (G). Panel (E) shows B-allele frequency for rs4241189 on chromosome 2 in HECW2 gene, and panel (F) shows that for tumour.

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