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. 2023 May 15;14:2613. doi: 10.1038/s41467-023-38140-1

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© The Author(s) 2023

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 — Results from TWAS prioritize genes (a) and transcripts (b) whose cis-regulated expression in placenta (N = 146 for the gene-level TWAS; N = 147 for the transcript-level TWAS) is associated with disease. Plots show conditionally-independent TWAS prioritized genes (a) and transcripts (b). The sign of TWAS z-scores (y-axis) indicates predicted direction of effect. Genes with predicted expression significantly up- or down-regulated in placenta are respectively above and below the horizontal lines corresponding to the TWAS level of significance after Bonferroni correction for multiple comparisons. 100 genes and 235 transcripts are significantly associated with schizophrenia (corresponding to 262 unique genes). Pathway (c, top 12 and selected) and upstream regulators (d, selected) enriched for the schizophrenia risk genes identified with the TWAS (N of genes = 262): bars depict negative logarithm of the P values (orange bars: activation, turquoise: inhibition, gray: absence of predicted directionality; negative logarithm of Benjamini–Hochberg corrected p-values are shown in (c), of uncorrected p value in (d) from right-tailed Fisher’s Exact Test.