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. 2022 Jan 11;12:783790. doi: 10.3389/fgene.2021.783790

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Copyright © 2022 Wang, Zhang, Tang, Zheng, Li, Yang and Xiang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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UPD analysis of the manharboring a CFAP251 variant. (A) The SNP-array result of the patient. The purple box indicates the region of ROH on chromosome 12. (B) The results of UPD tool for the classification of uniparental disomy (UPD). Blue line indicates fraction of homozygous SNPs; red line indicates fraction of mendelian error SNPs; green line indicates fraction of SNPs where the genotype is identical to the father; black line indicates fraction of SNPs where the genotype is identical to the mother; yellow line indicates fraction of errors (=ME that cannot be explained by UPD). The black arrow indicates the region of isodisomy from 115 to 125 MB of chromosome 12.