Analysis of a cell-free DNA–based cancer screening cohort links fragmentomic profiles, nuclease levels, and plasma DNA concentrations

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Figure 4.
Figure 4.

End motifs with significant correlation to cfDNA concentration. The frequencies of all 256 end motifs (4-mer) were correlated to the cfDNA concentration. The resulting analysis revealed 34 negatively correlated end motifs to cfDNA concentration and 45 positively correlated end motifs. (A) Heatmap analysis with rows indicating a particular 4-mer motif, in which the first base of the motif highlighted by a specific color in the left-most column (A, C, G, and T are colored by green, red, yellow, and blue, respectively). Each column indicates a plasma DNA sample from one subject. The frequency z-score, calculated for each end motif, is shown by the color scale. A support vector regression (SVR) model was trained with fragmentomic features to predict cfDNA concentration, using end motif frequencies (B) and both end motif and size profiles (C).

This Article

  1. Genome Res. 35: 31-42

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