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Article

The mutational signatures of formalin fixation on the human genome.

Nature communications - 6 Sept 2022

Guo Qingli, Lakatos Eszter, Bakir Ibrahim Al, Curtius Kit, Graham Trevor A, Mustonen Ville

Abstract excerpt

Clinical archives of patient material near-exclusively consist of formalin-fixed and paraffin-embedded (FFPE) blocks. The ability to precisely characterise mutational signatures from FFPE-derived DNA has tremendous translational potential. However, sequencing of DNA derived from FFPE material is known to be riddled with artefacts. Here we derive genome-wide mutational signatures caused by formalin fixation. We...

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Identifiers

PMID: 36068219
DOI: 10.1038/s41467-022-32041-5
PMCID: PMC9448750

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