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Process mutations

Max Leiserson edited this page Jun 16, 2016 · 5 revisions

We use the process_mutations.py script to construct mutation datasets from the SNVs in one or more MAF files and alteration files in "event" format. The output is a single file in JSON format. We detail the arguments and file formats below.

Arguments

Note: You can combine multiple mutation datasets by passing more than you mutation file group (-m).

Argument Required (Default) Description
-m/--mutation_file_groups True Pass one more files for each -m parameter. Files ending with .maf will be processed as MAFs. All other file endings will be processed as event files.
-ct/--cancer_types True String label for each mutation file group.
-o/--output_file True Path to output file. Output is in JSON format.
-hf/--hypermutator_file False (None) Path to hypermutators file. See formatting below.
-ivc/--ignored_variant_classes False ([Silent, Intron, 3'UTR, 5'UTR, IGR, lincRNA, RNA]) Exclude mutations of this variant class.
-ivt/--ignored_variant_types False (Germline) Exclude mutations of this variant type.
-ivs/--ignored_validation_statuses False (Wildtype, Invalid) Exclude mutations of this validation status.
-h/--help False Display usage instructions.
-v/--verbose False (0) Choices: 0, 1, 2, 3, 4, 5. Higher values correspond to more verbose output.

File formats

  • MAF file. File in mutation annotation format. See the Mutation Annotation Format Specification for details, including the sets of allowed variant classes, variant types, and validation statuses.
  • Event file. Tab-separated "adjacency list" format. Each line lists a sample in the first column, with each other column containing the name of an alteration in that sample (e.g. gene names). Warning: alteration names that appear in both the MAF and event files can overwrite one another.
  • Hypermutators file. Text file listing of samples/patients classified as hypermutators. One patient/sample per line.

Last modified: 2:40 PM Thursday, June 16, 2016 (EDT)

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