genome :: music :: path-scan

genome music path-scan


genome music path-scan - Find signifcantly mutated pathways in a cohort given a list of somatic mutations.


This document describes genome music path-scan version 0.0401 (2014-02-13 at 08:01:08)


genome music path-scan --gene-covg-dir=? --bam-list=? --pathway-file=? --maf-file=? --output-file=? [--bmr=?] [--genes-to-ignore=?] [--min-mut-genes-per-path=?] [--skip-non-coding] [--skip-silent]

 ... music path-scan \
        --bam-list input_dir/bam_file_list \
        --gene-covg-dir output_dir/gene_covgs/ \
        --maf-file input_dir/myMAF.tsv \
        --output-file output_dir/sm_pathways \
        --pathway-file input_dir/pathway_dbs/KEGG.txt \
        --bmr 8.7E-07


gene-covg-dir Text

Directory containing per-gene coverage files (Created using music bmr calc-covg)

bam-list Text

Tab delimited list of BAM files [sample_name, normal_bam, tumor_bam] (See Description)

pathway-file Text

Tab-delimited file of pathway information (See Description)

maf-file Text

List of mutations using TCGA MAF specifications v2.3

output-file Text

Output file that will list the significant pathways and their p-values


bmr Number

Background mutation rate in the targeted regions

Default value '1e-06' if not specified

genes-to-ignore Text

Comma-delimited list of genes whose mutations should be ignored

min-mut-genes-per-path Number

Pathways with fewer mutated genes than this, will be ignored

Default value '1' if not specified

skip-non-coding Boolean

Skip non-coding mutations from the provided MAF file

Default value 'true' if not specified

noskip-non-coding Boolean

Make skip-non-coding 'false'

skip-silent Boolean

Skip silent mutations from the provided MAF file

Default value 'true' if not specified

noskip-silent Boolean

Make skip-silent 'false'


Only the following four columns in the MAF are used. All other columns may be left blank.

 Col 1: Hugo_Symbol (Need not be HUGO, but must match gene names used in the pathway file)
 Col 2: Entrez_Gene_Id (Matching Entrez ID trump gene name matches between pathway file and MAF)
 Col 9: Variant_Classification
 Col 16: Tumor_Sample_Barcode (Must match the name in sample-list, or contain it as a substring)

The Entrez_Gene_Id can also be left blank (or set to 0), but it is highly recommended, in case genes are named differently in the pathway file and the MAF file.


This is a tab-delimited file prepared from a pathway database (such as KEGG), with the columns: [path_id, path_name, class, gene_line, diseases, drugs, description] The latter three columns are optional (but are available on KEGG). The gene_line contains the "entrez_id:gene_name" of all genes involved in this pathway, each separated by a "|" symbol.

For example, a line in the pathway-file would look like:

  hsa00061    Fatty acid biosynthesis    Lipid Metabolism    31:ACACA|32:ACACB|27349:MCAT|2194:FASN|54995:OXSM|55301:OLAH

Ensure that the gene names and entrez IDs used match those used in the MAF file. Entrez IDs are not mandatory (use a 0 if Entrez ID unknown). But if a gene name in the MAF does not match any gene name in this file, the entrez IDs are used to find a match (unless it's a 0).

This is usually the gene_covgs subdirectory created when you run "music bmr calc-covg". It should contain files for each sample that report per-gene covered base counts.
Provide a file containing sample names and normal/tumor BAM locations for each. Use the tab- delimited format [sample_name normal_bam tumor_bam] per line. This tool only needs sample_name, so all other columns can be skipped. The sample_name must be the same as the tumor sample names used in the MAF file (16th column, with the header Tumor_Sample_Barcode).
The overall background mutation rate. This can be calculated using "music bmr calc-bmr".
A comma-delimited list of genes to ignore from the MAF file. This is useful when there are recurrently mutated genes like TP53 which might mask the significance of other genes.


 Michael Wendl, Ph.D.


This module uses reformatted copies of data from the Kyoto Encyclopedia of Genes and Genomes (KEGG) database:

 * KEGG - http://www.genome.jp/kegg/