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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. 7 — Combination analysis indicates using more HPO terms lead to a higher chance of the correct prioritization. ‘High confidence’, where the known deletion has a normalized Phenolyzer score no less than 0.5; ‘Medium confidence’, where the known deletion has a normalized Phenolyzer score between 0.1 and 0.5; ‘Low confidence’, where the known deletion has a normalized Phenolyzer score less than 0.1