The mutREAD method detects mutational signatures from low quantities of cancer DNA.

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Perner, Juliane 
Nowicki-Osuch, Karol  ORCID logo
Eldridge, Matthew D  ORCID logo

Mutational processes acting on cancer genomes can be traced by investigating mutational signatures. Because high sequencing costs limit current studies to small numbers of good-quality samples, we propose a robust, cost- and time-effective method, called mutREAD, to detect mutational signatures from small quantities of DNA, including degraded samples. We show that mutREAD recapitulates mutational signatures identified by whole genome sequencing, and will ultimately allow the study of mutational signatures in larger cohorts and, by compatibility with formalin-fixed paraffin-embedded samples, in clinical settings.

Computational Biology, DNA Mutational Analysis, DNA Primers, DNA, Neoplasm, Genes, Neoplasm, Genetic Testing, Genome, Human, Humans, Mutation, Neoplasms, Sequence Analysis, DNA, Whole Genome Sequencing
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Nat Commun
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Springer Science and Business Media LLC
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Medical Research Council (MC_UU_12022/2)
The OCCAMS consortium for sample collection and sequencing was funded by a Programme Grant from Cancer Research UK. The laboratory of R.C.F. is funded by a Core Programme Grant from the Medical Research Council (RG84369). We thank the Human Research Tissue Bank, which is supported by the UK National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, from Addenbrooke’s Hospital. Additional infrastructure support was provided from the Cancer Research UK–funded Experimental Cancer Medicine Centre.