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. 2019 Jul 5;10:2985. doi: 10.1038/s41467-019-11059-2

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© The Author(s) 2019

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. 3 — Summary of validation results for de novo mutations. Comparison of the variant allele fraction (VAF) from exome sequencing versus from ultrahigh-depth sequencing for candidate DNMs, separated into validation classes: constitutive DNM (red), mosaic DNM (blue) and false positive (green). Validation data from both saliva and blood samples are included where available. The correlation between exome and validation VAFs (R² = 0.49) includes only mosaic variants