The 2417 and 3619 unique genes mapped from the maternal EPDS-vCpGs bearing female fetus and EPDS-vCpGs from female fetus-facing placenta tissues were respectively imported into MetaCoreTM (v21.1.70400; Clarivate Analytics) for pathway enrichment and transcription factor analyses. 25,641 and 25, 281 unique genes mapped from the vCpGs of both maternal blood and placenta sources were used respectively as the reference list. P-values for transcription factor analyses were determined using hypergeometric intersection.
Each input gene mapped from maternal EPDS-vCpGs bearing female fetuses was also queried against previously associated phenotypes using FUMA (Watanabe et al., 2017 (link)). FUMA was also used to examine the up-regulated expression of these genes mapped from EPDS-vCpGs, relative to genes mapped from vCpGs, in specific tissues based on GTex v8 RNA-seq data (GTEx Consortium and Ardlie, 2015 (link)). Bonferroni corrected p-values were provided for the up-regulated differentially expressed gene sets from FUMA.
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