Fig. 1: Study outline and characterization of Pointy data.
From: Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA
cfDNA libraries were generated from plasma samples from patients with cancer and healthy individuals from two independent cohorts. Whole-genome sequencing (WGS) was performed to 0.3–1.5× coverage (Supplementary Data 1). Mutational signatures were extracted from these data, enabling signature profiling and sample classification (“Methods”), tested in two independent cohorts.
