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. 2014 Jan 25;23(12):3200–3211. doi: 10.1093/hmg/ddu030

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© The Author 2014. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Paternal isodisomy in Patient 2. (A) We observed multiple Mendelian errors on chromosome 9 which led us to suspect uniparental disomy (UPD). All variants in the patient (OTH_5) appeared to have been inherited from his father (OTH_6). The KCNT1 variant is illustrated here as an example. Grey bars represent individual sequencing reads from the sample indicated on the left, and colored letters divergences from the reference sequence. The grey ‘pile-up’ along the top indicates the sequence coverage. The genotype of each individual is shown. (B) These plots show the proportion of variants that are homozygous in 500 kb windows across chr9. OTH_5 was completely homozygous, apart from a few spurious calls; the pattern is similar to that seen on chromosome X in males. His father, OTH_6, is shown for comparison. Note that the dip in the middle represents the centromere.