Fig. 1: Whole-genome sequencing of cfDNA enables fragment-based liquid biopsy analysis in Ewing sarcoma. | Nature Communications

Fig. 1: Whole-genome sequencing of cfDNA enables fragment-based liquid biopsy analysis in Ewing sarcoma.

From: Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden

Fig. 1

The top row of the figure describes the fragmentation and fragment-based analysis of cfDNA in cancer patients. The center row introduces the study cohort (center left) and illustrates the quantification of tumor-derived DNA based on genetic evidence, which is used as a reference in this study (center right). The bottom part of the figure outlines three complementary approaches to fragment-based cfDNA analyses: global fragment-size distribution; regional fragment-size distribution along the genome; and fragment coverage at regions-of-interest (bottom left). CNA profiles were used for comparing cfDNA to matched tumors biopsies and for time-resolved monitoring of tumor evolution. Fragment-based cfDNA metrics were combined for machine learning-based tumor detection and classification (bottom right). The main figures describing each of the analyses are indicated in brackets.

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