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. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843

Figure 1. Enrichment of de novo mutations in fetal brain-specific enhancers.

Figure 1.

(A) Enrichment of the observed number of de novo mutations in fetal brain-specific enhancers and human gain enhancers as compared with adult brain subsection-specific enhancers in the intellectual disability cohort (n = 47) and healthy controls (GoNL). (B) DNM enrichment in in-house (n = 17) and severe ID cohorts (n = 30). The fetal brain enhancers (orange bars) represent fetal brain-specific and human-gained enhancers. The adult brain enhancers (turquoise bar) represent adult brain subsection-specific enhancers, including angular gyrus, anterior caudate, cingulate gyrus, germinal matrix, hippocampus middle, inferior temporal lobe, dorsolateral prefrontal cortex, and substantia nigra. ID: Intellectual disability, GoNL: Genomes of the Netherland, In house: ID cohort sequenced in this study, Severe ID: Coding-negative ID cohort from reference 3 study.