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. 2017 Apr 28;7(4):e559. doi: 10.1038/bcj.2017.36

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Copyright © 2017 The Author(s)

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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DNA copy number alteration in two cases with UPD, detected by WES. Patients No. 7 and 17 had UPD in chromosomes 1p and 3q, respectively. Copy number alterations were analyzed by comparing the total copy number with the allele—specific copy number. Blue dots on the upper line indicate the total copy number, while red and green dots on the lower line represent each the allele-specific copy number of hetero SNPs.