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. 2019 Jan 24;21(9):2126–2134. doi: 10.1038/s41436-019-0439-8

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. 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-nc-nd/4.0/.

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Fig. 2 — Case illustrations and performance evaluation of Emission-Reception Information Content (ERIC) score. a Case illustrations demonstrating ideas of ERIC score. Four different phenotype cases (I to IV) are shown as examples. A–E are phenotype terms in the phenotype ontology tree, and R is the root. A and B are phenotype terms in comparison. C is the most informative common ancestor (MICA) of phenotypes A and B in cases I, II, and III. In case IV, both phenotypes A and E are far from the outside of the circle with the center of D (the MICA of A and E) and the radius of IC(D), thus E is considered as a noisy phenotype of A by ERIC score. b Performance evaluation of phenotype similarity measures for prioritizing target genes. Resnik, JC, Lin, and ERIC scores were compared. We simulated phenotypes with various imprecision and noise levels, e.g., 2|2|4 represents two true precise phenotypes in the Human Phenotype Ontology (HPO) database, two imprecise phenotypes, and four random noise phenotypes. The top panel represents phenotype sets simulated with imprecision. The middle panel represents phenotype sets simulated with noise. The bottom panel represents phenotype sets with both imprecision and noise. The x-axis is the rank percentile of target genes among 8643 OMIM genes. The y-axis is the cumulative distribution function (CDF) of the rank percentile.