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[Preprint]. 2024 Jan 4:2024.01.03.574078. [Version 1] doi: 10.1101/2024.01.03.574078

Fig. 2. RNA-MosaicHunter reveals elevated burden of somatic mutations in the cerebral cortex of AD patients.

Fig. 2.

a–b, Benchmarking the performance of RNA-MosaicHunter using the TCGA cancer data. 513 of 613 sSNVs identified by RNA-MosaicHunter were confirmed by MuTect in the matched DNA-seq data (filled circle in a). RNA-MosaicHunter recaptured 65 sSNVs that are present in DNA-seq but missed by MuTect (open circle in a; grey bar in b). TP, true positive; FN, false negative; FP, false positive. c-d, Greater mutation burden in cerebral cortex samples of AD patients when compared to matched controls. A significant two-fold increase of sSNV density in AD prefrontal cortex and temporal cortex was consistently found in both ROSMAP (c) and MayoRNAseq (d) cohorts. The burden increase was not observed in the AD cerebellum. CI, cognitive impairment. e, Linear regression modeling confirms that the sSNV increase in AD brains remains significant after controlling for potential covariates. PMI, postmortem interval. f, Gene Ontology terms enriched for AD sSNVs. Genes regulating cell cycle and proliferation are specifically enriched for AD but not control sSNVs. c–e, Error bar, 95% CI.