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Fig. 5 | Genome Medicine

Fig. 5

From: Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Fig. 5

Different lines of evidence support cell-specific enrichment for striatum. a A curated list of 899 genes from the Autism Database (AutDB) shows cell-type enrichment in the cortex (layer 6, Benjamini-Hochberg adjusted enrichment p = 2 × 10−5 at specificity index probability (pSI) of 0.05) and striatum (for D1+ and D2+ spiny neurons, adjusted p = 8 × 10−6 and p = 8 × 10−4 at pSI = 0.05) tissues. b Enrichment results using 211 genes with rare (frequency < 0.1%) clustered missense mutations [5] (for both D1+ and D2+ spiny neurons, adjusted p = 0.005 at pSI = 0.05). c NDD patients with ≥ 3 DNMs (for D1+ and D2+ spiny neurons, adjusted p = 0.08 and p = 0.01 at pSI = 0.05) (reproduced with permission from [8]). d Unaffected siblings with ≥ 3 DNMs show no cell-type specific enrichment [8] (for D1+ and D2+ spiny neurons, adjusted p = 0.84 and p = 0.90 at pSI = 0.05) (reproduced with permission from [8]). Candidate cell types were identified using the Cell-type Specific Enrichment Analyses tool [37]. The resulting honeycomb images show increasingly stringent pSI thresholds in each nested hexagon, where darker colors denote p values of higher significance. DNM de novo mutation

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