mutation detection
Germline Mutagenesis Traced Back to Meiotic Breaks, Error-Prone Repair
By mapping mutations in relation to recombination hotspots, researchers revealed mutagenic effects of meiotic DNA breaks and error-prone repair mechanisms.
Investigational Cancer Drug Deemed Highly Mutagenic in Cell Line Sequencing Study
Using whole-genome sequencing on drug-exposed cell lines, researchers saw high mutation rates in control cell lines intermittently treated with a compound called CX-5461.
Cancer Study Finds Protein-Truncating Mutations Overrepresented in Specific Mutational Signatures
Researchers linked stop-gain mutations stemming from smoking, APOBEC enzyme activity, and reactive oxygen species to related mutational signatures, genes, and pathways.
Mpox Transmitted Between Humans for Several Years, Study Finds
By analyzing mpox virus mutations introduced by APOBEC deaminase enzymes in human hosts, researchers traced steady transmission between humans back to late 2015 or early 2016.
Pan-Cancer Study Points to Epigenetic Contributors to Cancer Development, Metastasis
With single-cell sequencing strategies, researchers profiled epigenomic and transcriptomic features in individual cells from hundreds of tumors across 11 cancer types.