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. 2023 Jun 30;14:3884. doi: 10.1038/s41467-023-39538-7

Fig. 3. A Huatuo inferred genetic variation landscape for 44 major cell types from 20 human tissues.

Fig. 3

a The number of putative cell type-specific functional regulatory variants and associated genes inferred from Huatuo in each cell type. b Systematical validation of putative cell type-specific regulatory variants using an external scATAC-seq dataset. The heatmap shows z-scores for the enrichment of putative regulatory variants of each investigated HCL cell type (y-axis) in the differential chromatin accessibility of each cell type from an external scATAC-seq dataset (x-axis). The enrichment was evaluated using AUC scores, reflecting the extent of agreement between the inferred cell type-specific regulatory variants and the observed cell type-specific regulatory regions. The color-coding of labels on both the x-axis and y-axis indicates the cell lineage assignment of investigated cell types.