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Article

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

Nature communications - 23 Aug 2022

Wan Jonathan C M, Stephens Dennis, Luo Lingqi, White James R, Stewart Caitlin M, Rousseau Benoît, Tsui Dana W Y, Diaz Luis A

Abstract excerpt

Mutational signatures accumulate in somatic cells as an admixture of endogenous and exogenous processes that occur during an individual's lifetime. Since dividing cells release cell-free DNA (cfDNA) fragments into the circulation, we hypothesize that plasma cfDNA might reflect mutational signatures. Point mutations in plasma whole genome sequencing (WGS) are challenging to identify through conventional mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35999207
DOI: 10.1038/s41467-022-32598-1
PMCID: PMC9399180

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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