Interpretation of allele-specific chromatin accessibility using cell state–aware deep learning

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Figure 2.
Figure 2.

TF motif enrichment on ASCAVs. (A) Selection of ASCAVs and control variants used to assess the association between sequence content and allele-specific accessibility. (B) Heatmap showing the clustering of all 719 ASCAV-enriched motifs into 47 families (color-coded margins). The 13 major families are labeled with their cognate TF on the diagonal. (C) Scatter plot of motifs that are associated with chromatin accessibility. Each dot indicates a motif and is colored based on the motif cluster to which they belong. The x- and y-axes represent the delta cluster-buster motif score and the negative log-scaled FDR corrected P-value, respectively. (D) Bar plot showing the number of ASCAVs explained by each motif cluster. For each family, the consensus motif is shown. (E) Scatter plot of the average expression of AP-1 family members (JUN, JUNB, JUND, FOS, FOSB, FOSL1, FOSL2) and the fraction of ASCAVs that affects an AP-1 binding site. Correlation coefficient (Kendall's tau) and P-value are shown. (F) Fractions of ASCAVs explained at different false-positive rates are shown as curves for each MM line. Dashed lines represent the control for each MM line, where labels of ASCAVs and control variants are shuffled.

This Article

  1. Genome Res. 31: 1082-1096

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