1. The mutREAD method detects mutational signatures from low quantities of cancer DNA
- Author
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Sujath Abbas, Juliane Perner, Karol Nowicki-Osuch, Ginny Devonshire, Matthew D. Eldridge, Simon Tavaré, Rebecca C. Fitzgerald, Abbas, Sujath [0000-0002-2541-4969], Nowicki-Osuch, Karol [0000-0003-3828-8620], Devonshire, Ginny [0000-0002-1408-8176], Eldridge, Matthew D [0000-0002-5799-8911], Fitzgerald, Rebecca C [0000-0002-3434-3568], Apollo - University of Cambridge Repository, Eldridge, Matthew D. [0000-0002-5799-8911], and Fitzgerald, Rebecca C. [0000-0002-3434-3568]
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0301 basic medicine ,DNA Mutational Analysis ,General Physics and Astronomy ,medicine.disease_cause ,Genome ,chemistry.chemical_compound ,0302 clinical medicine ,Neoplasms ,Cancer genomics ,631/1647/514/1948 ,631/208/68 ,DNA sequencing ,lcsh:Science ,Cancer genetics ,health care economics and organizations ,Mutation ,Multidisciplinary ,food and beverages ,45/77 ,DNA, Neoplasm ,030220 oncology & carcinogenesis ,Sequence analysis ,Bioinformatics ,Science ,45/22 ,Clinical settings ,45/23 ,Computational biology ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,medicine ,Humans ,Genetic Testing ,Gene ,DNA Primers ,Whole genome sequencing ,Whole Genome Sequencing ,Genome, Human ,fungi ,631/1647/48 ,Cancer ,Computational Biology ,General Chemistry ,Sequence Analysis, DNA ,medicine.disease ,692/4028/67/69 ,030104 developmental biology ,chemistry ,lcsh:Q ,119 ,DNA ,Genes, Neoplasm - Abstract
Funder: 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, 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.
- Published
- 2020
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