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. 2017 Feb 23;10:10. doi: 10.1186/s12920-017-0246-5

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© The Author(s). 2017

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 8 — Phenolyzer networks analysis of both HPO and WGS data yielded the correct diagnosis for the individual with HH (K10031-10145). Phenolyzer successfully linked the gene HFE to two HPO terms (HP:0011031 Abnormality of iron homeostasis, HP:0000939 Osteoporosis), bridged by the predictive diagnosis, hemochromatosis. The most disease relevant gene HFE, is showed as a seed gene (blue)