Figure 2.

Tracing the developmental lineage of somatic mutations. (A) Experimental schematic for the integration of single-cell 3′-RNA-seq with single-cell targeted long-read sequencing. (B) Cell types identified in brain anatomical sites A and C from single-cell gene expression analysis based on (C) marker gene expression. (D) Markers of cortical neuronal subtypes identified. (E) Overlay of genotype derived from long-read sequencing onto 3′-RNA-seq gene expression data. (F) Variant allele fractions by cell type demonstrate that variants are enriched in disease-involved neurons. (G) Proposed developmental history of two PTEN somatic mutations. OPC = oligodendrocyte precursor cells; VLMC = vascular and leptomeningeal cells.