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. 2021 Apr 19;23(8):1551–1568. doi: 10.1038/s41436-021-01159-0

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© The Author(s) 2021

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. 1 — a Patient-centered approach to systematically interrogate variants in genes not yet associated to human diseases in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). b Gene variant centered approach to analyze de novo variants in cases with ES/GS performed and no genetic diagnosis. DP depth of reads, pLI probability of loss-of-function intolerance.