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. 2017 Sep;3(5):a001735. doi: 10.1101/mcs.a001735

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© 2017 Griffin et al.; Published by Cold Spring Harbor Laboratory Press

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Figure 3. — Genetic findings in HME2. (A) Genome-wide genotyping data revealing somatic uniparental disomy (UPD) of the p-arm of Chromosome 16, as evidenced by an allelic imbalance exclusively in brain tissue based on the B-allele frequency for heterozygous variants deviating from 0.5 in DNA from brain tissue (red dots) compared DNA from leukocytes (blue dots), without changes in the overall signal intensity (logRratio). (B) Bar graph of the B-allele frequency of heterozygous variants detected in the leukocytes of probands broken out by the parental genotype.