Direct quantification of in vivo mutagenesis and carcinogenesis using duplex sequencing

• DOI: 10.1073/pnas.2013724117
• Publication Date: 2020-12-16T22:52:04Z
• Authors: Charles C. Valentine; Robert R. Young; Mark R. Fielden; Rohan Kulkarni; Lindsey N. Williams; Tan Li; Sheroy Minocherhomji; Jesse J. Salk
• Keywords: 0301 basic medicine; Genome; Transcription, Genetic; Carcinogenesis; High-Throughput Nucleotide Sequencing; Mice, Transgenic; DNA; Oncogenes; Biological Sciences; 3. Good health; 03 medical and health sciences; Genes, ras; Phenotype; Genetic Loci; Mutagenesis; Neoplasms; Mutation; Carcinogens; Animals; Cluster Analysis; Humans

Significance Error-corrected next-generation sequencing (ecNGS) can be used to rapidly detect and quantify the in vivo mutagenic impact of environmental exposures or endogenous processes in any tissue, from any species, at any genomic location. The greater speed, higher scalability, richer data outputs, and cross-species and cross-locus applicability of ecNGS compared to existing methods make it a powerful new tool for mutational research, regulatory safety testing, and emerging clinical applications.