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. 2021 Mar 29;13:50. doi: 10.1186/s13073-021-00867-1

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© The Author(s) 2021

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 3 — Comparison of ASQM scores of overlapping or distinct genes on commercial panels. Box and whisker plot of ASQM scores of genes that appeared on all four commercial laboratory NBS panels, only three commercial panels, only two commercial panels, and only one commercial panel. The gray box represents the area where genes-disease pairs scoring 9, 10, or 11 could not be automatically categorized and necessitated further discussion by the scoring committee prior to final categorization. Distributions varied significantly across all panels by Kruskal–Wallis test (p < 0.0001), and paired Mann–Whitney U tests identified significant differences in three out of four comparisons between scores of genes on all four panels versus only two panels (*p = 0.429), scores of genes on all four panels versus only one panel (****p < 0.0001), scores of genes on three panels versus only one panel (****p < 0.0001), and scores of genes on two panels versus only one panel (***p = 0.0001)