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. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8

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© The Author(s) 2018

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 — Exploration of heterogeneity of diagnostic utility in WGS and WES studies. a Meta-regression scatterplot for study size. On average, an increase of 1000 subjects decreased the odds of diagnosis by 28% (P = 0.01). Size of data point corresponds to the study’s inverse-variance weight. b Meta-regression scatterplot for diagnostic utility of WGS/WES vs year of study publication. On average, the odds of diagnosis increased by 16% per annum since 2013 (P = 0.01). c Meta-regression scatterplot for the diagnostic utility of CMA vs year of study publication. The odds of diagnosis decreased by an average of 14% per year between 2013 and 2017 (P < 0.001). d The rate of diagnosis associated with de novo variation varied inversely with consanguinity. On average, increasing the rate of consanguinity by 10% decreased the odds of de novo variant diagnoses by 21% (P < 0.001)