Somatic mutations are the DNA changes a tumour acquired during life; they are read from exome (protein-coding) or whole-genome sequencing of tumour and matched normal tissue.
Exome sequencing selects and sequences the protein-coding regions of all genes, about one to two percent of the genome (Wikipedia), and whole genome sequencing determines the entire DNA sequence at once. TCGA relied mainly on exomes, so its mutation data (distributed as MAF files) covers coding changes; whole genomes add non-coding and structural variants. Mutation data is sparse (most genes unmutated in most tumours), which is why it adds little to expression in many prediction tasks.
Showing the technology this term belongs to: Whole-exome & whole-genome sequencing.
Shares Variant calling, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Targeted panel sequencing, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Variant calling, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Whole-exome & whole-genome sequencing, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Variant calling, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Tumour mutational burden (TMB), Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Variant calling, Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.
Shares Cancer AI vocabulary (CanSim terms map) and the tag cansim-terms.