Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA
oleh: Jonathan C. M. Wan, Dennis Stephens, Lingqi Luo, James R. White, Caitlin M. Stewart, Benoît Rousseau, Dana W. Y. Tsui, Luis A. Diaz
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2022-08-01 |
Deskripsi
Detection of mutational signatures in cell-free DNA (cfDNA) is challenging due to low sequence coverage and low mutant allele fractions. Here, the authors identify mutational signatures in plasma whole genome sequencing of cancer patients and use machine learning to distinguish them from healthy individuals.