The mutational signatures of formalin fixation on the human genome

HIGHLIGHTS

  • who: Qingli Guo from the (UNIVERSITY) have published the research work: The mutational signatures of formalin fixation on the human genome, in the Journal: (JOURNAL) of 11/05/2021
  • what: The authors show that the FFPE-signature is highly similar to signature 30 (the signature of Base Excision Repair deficiency due to NTHL1 mutations), and chemical repair of DNA lesions leads to a signature highly similar to signature 1 (clock-like signature due to spontaneous deamination of methylcytosine). The authors demonstrate that using uncorrected mutational catalogues of FFPE samples leads to major mis-assignment of . . .

     

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