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Mutational Signatures: From Methods to Mechanisms.

Annual review of biomedical data science - 20 Jul 2021

Kim Yoo-Ah, Leiserson Mark D M, Moorjani Priya, Sharan Roded, Wojtowicz Damian, Przytycka Teresa M

Abstract excerpt

Mutations are the driving force of evolution, yet they underlie many diseases, in particular, cancer. They are thought to arise from a combination of stochastic errors in DNA processing, naturally occurring DNA damage (e.g., the spontaneous deamination of methylated CpG sites), replication errors, and dysregulation of DNA repair mechanisms. High-throughput sequencing has made it possible to generate large...

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PMID: 34465178
DOI: 10.1146/annurev-biodatasci-122320-120920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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