Fig. 5

Integration of cfDNA methylation with snRNA-Seq for frontal cortex and motor cortex of ALS [32]. (A) Venn diagram showing the overlap between cfDNA-derived DMR-associated genes and DEGs identified in ALS patients’ frontal cortex and motor cortex compared to controls. (B) Number of DEGs overlapping with DMR-associated genes in six major cell types of the frontal cortex (left) and motor cortex (right), respectively. (C) Bar graphs showing the percentage of DEGs in each cell type associated with DMRs in cfDNA. (D) Genomic annotation of the DMRs from overlapping genes, showing their percentage of each genomic feature. (E) Box plots displaying the LogFC of DEGs with differential methylation in cfDNA across each major cell type in the frontal cortex (left) and motor cortex (right), respectively. F-G. KEGG pathway analysis of overlapping genes to assess their functional significance in ALS’s frontal cortex (left) and motor cortex (right)