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Concepts
A classification of mutations into single-base-substitution (SBS
), doublet-base-substitution (DBS
), insertion/deletion (INDEL
)
A classification of mutations of a specific mutation type into categories. For example, by considering 6 mutation classes of single-base-substitutions C>A
, C>G
, C>T
, T>A
, T>C
, T>G
as well as 5' and 3' flanking bases, we obtain the SBS_96
category type. This maps to the SBS_96_category_name
and SBS_96_category_list
functions in the mutation-signatures-data categories.py file.
A distribution over mutation categories from a specific category type. For example Signature 1 from COSMIC (which maps to the SBS_96
category type).
A set of signatures from a source. For example the COSMIC
signature group consists of 30 signatures. A signature group can consist of signatures spanning multiple category types.
A cancer type is simply a name. Ideally this name maps to an Oncotree Code
found in the Oncotree tool.
A set of pathways. For example the DNA Damage Repair
pathways group might include the Nucleotide Excision Repair
pathway and Base Excision Repair
pathway (among others).
A set of genes. For example the Nucleotide Excision Repair
pathway might include the genes ERCC2
and POLD1
.