Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA

Autor: Jonathan C. M. Wan, Dennis Stephens, Lingqi Luo, James R. White, Caitlin M. Stewart, Benoît Rousseau, Dana W. Y. Tsui, Luis A. Diaz
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-022-32598-1
Popis: 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.
Databáze: Directory of Open Access Journals