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. 2017 Apr 12;25(7):869–876. doi: 10.1038/ejhg.2017.51

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Copyright © 2017 The Author(s)

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 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-nc-sa/4.0/

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Imputation accuracy for common (MAF≥5%), low-frequency (0.5≤MAF<5%) and rare (MAF<0.5%) well-imputed variants (INFO>0.4) imputed from different IRPs. (a) Non-reference (NR) sensitivity—proportion of whole-exome sequencing (WES) based NR variant calls that were also retrieved through imputation process. (b) NR discordancy rate—proportion of NR variants that were retrieved through imputation process but had incorrect genotype calls as compared to the WES genotypes.