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. 2020 Aug 11;5:33. doi: 10.1038/s41525-020-00140-1

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — a The number of HPO terms extracted at enrollment and reanalysis, with each case represented by two linked points. b The number of HPO subcategories (out of 28 total) represented by terms extracted at enrollment and reanalysis. c The average information content (IC) of HPO terms extracted at enrollment and reanalysis differed significantly (Wilcoxon paired signed-rank test; p < 0.0001). Each case is represented by one point. The two cases for which diagnoses were reported following reanalysis are represented by a red square (case 6009) and a red triangle (case 6033).