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

Accepted version
Peer-reviewed

Change log

Authors

Perner, Juliane 
Nowicki-Osuch, Karol  ORCID logo  https://orcid.org/0000-0003-3828-8620
Eldridge, Matthew D  ORCID logo  https://orcid.org/0000-0002-5799-8911

Abstract

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.

Description

Keywords

Computational Biology, DNA Mutational Analysis, DNA Primers, DNA, Neoplasm, Genes, Neoplasm, Genetic Testing, Genome, Human, Humans, Mutation, Neoplasms, Sequence Analysis, DNA, Whole Genome Sequencing

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

11

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved
Sponsorship
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.