Fig. 2. Clustering and cell-type-specific isoform distribution.
a Cohort UMAP embeddings by data types and automatic cell-type annotation. Top and bottom rows: cell-type labels based on short- and long-read data, respectively. Left column: embedding on short-read data—gene level, middle column: embedding on long-read data—gene level, right column: embedding on long-read data—isoform level. b Jaccard distance of cell populations in different UMAP embeddings: short reads—gene level versus long reads— gene level (left), short reads—gene level versus long reads—isoform level (middle), long reads—gene level versus long reads—isoform level (right). Long reads—gene-level UMAP cohort visualizations of cells with at least one germline (c) or somatic (d) mutation also found in targeted NGS panel data of matched patient samples. Germline variants are variants detected in healthy omentum distal samples. e SQANTI-defined structural category normalized distribution of isoforms detected per cell type (number of isoforms displayed in white).