A reference-free strategy for circulating tumor DNA detection from whole-genome sequencing data
Carmen Oroperv, Amanda Frydendahl, Tenna Vesterman Henriksen, Giovanni Santacatterina, Alice Antonello, Nicola Calonaci, Mads Heilskov Rasmussen, Giulio Caravagna, IMPROVE-consortia, Claus L. Andersen, Søren Besenbacher
The paper introduces ctDNAmer, a reference-free tool for detecting ctDNA from WGS data by analyzing k-mers, showing improved tumor fraction estimation and detection compared to traditional methods.
bioRxiv · Jul 23, 2025 · PreprintBioinformatics