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Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types - PubMed

7 days ago
  • #genomics
  • #mutational signatures
  • #cancer research
  • Whole-genome sequencing (WGS) reveals oncogenic processes through mutation patterns.
  • Mutational signatures offer insights into tumor causes and potential treatment targets.
  • Study includes 10,983 patients across 16 cancer types from the 100,000 Genomes Project.
  • Identifies 134 signatures across five mutation classes, with 26 new to COSMIC.
  • Introduces a structural variation (SV) signature reference set.
  • Connects signatures to genomic features and clinical data for precision oncology applications.