학술논문
Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA
Document Type
article
Author
Source
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
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.