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Fig. 5 | Clinical Epigenetics

Fig. 5

From: Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Fig. 5

Biological and cross-tissue functional significance of differentially methylated genes. a Differentially methylated genes associated with the 16p11.2del and CHD8+/− DNAm signatures (q < 0.05, |Δβ| ≥ 5%) and the DNAm signature overlap with known ASD-risk genes (SFARI Gene). A single SFARI gene, clathrin heavy chain like 1 (CLTCL1), is significantly hypomethylated in both groups. An independent set of 9 SFARI genes are differentially methylated in the CHD8+/− DNAm signature. b Our findings are further corroborated by an independent study (48) showing that CHD8+/− human iPSC-derived neuronal precursor cells (NPCs) and differentiated neurons result in differentially expressed genes that overlap with some of the differentially methylated genes in CHD8+/− DNAm signature, including known ASD-risk genes (SFARI Gene), and c another study (49) showing that cerebral organoids derived from the iPSCs in b also have differentially expressed genes that overlap our CHD8+/− DNAm signature.

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