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. 2020 Aug 28;29(1):141–153. doi: 10.1038/s41431-020-00713-9

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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 Overall diagnostic yield in 1007 index cases. b GS diagnostic yield in 649 ‘naive’ cases (no previous ES). c Variant classification and diagnostic yield are influenced by GS test design (trio/other vs. solo). Singleton GS testing resulted in increased number of VUS reported due to difficulties phasing the alleles and recognition of de novo status, which indirectly affects diagnostic yield.