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. 2022 May 9;12:7576. doi: 10.1038/s41598-022-11589-8

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© The Author(s) 2022

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 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/.

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Integrative prediction of rare variant pathogenicity. (a) Significance analysis of HPO term overlap between probands and variant-associated transcription factors. (b) Schematic of transcription factor binding at candidate variant position. (c) MPRA analysis of candidate variant. (d) Volcano plot showing transcriptome-wide expression changes following CRISPRi-mediated repression of KDM5B. (e) Volcano plot showing transcriptome-wide expression changes following CRISPRi-mediated repression of variant site. (f) Significance analysis of overlapping expression changes following KDM5B or variant site repression. (g) MPRA analysis, transcription factor binding, and overlapping HPO terms for candidate variants.