genome :: music :: bmr :: calc-bmr

genome music bmr calc-bmr


genome music bmr calc-bmr - Calculates mutation rates given per-gene coverage (from "music bmr calc-covg"), and a mutation list


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


genome music bmr calc-bmr --bmr-output=? --roi-file=? --gene-mr-file=? --reference-sequence=? --bam-list=? --output-dir=? --maf-file=? [--skip-non-coding] [--skip-silent] [--bmr-groups=?] [--show-skipped] [--separate-truncations] [--merge-concurrent-muts] [--genes-to-ignore=?]

 ... music bmr calc-bmr \
    --bam-list input_dir/bam_list \
    --maf-file input_dir/myMAF.tsv \
    --output-dir output_dir/ \
    --reference-sequence input_dir/all_sequences.fa \
    --roi-file input_dir/all_coding_exons.tsv

 ... music bmr calc-bmr \
    --bam-list input_dir/bam_list \
    --maf-file input_dir/myMAF.tsv \
    --output-dir output_dir/ \
    --reference-sequence input_dir/all_sequences.fa \
    --roi-file input_dir/all_coding_exons.tsv \
    --genes-to-ignore GENE1,GENE2


bmr-output Number


roi-file Text

Tab delimited list of ROIs [chr start stop gene_name] (See DESCRIPTION)

gene-mr-file Text


reference-sequence Text

Path to reference sequence in FASTA format

bam-list Text

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

output-dir Text

Directory where output files will be written (Use the same one used with calc-covg)

maf-file Text

List of mutations using TCGA MAF specification v2.3


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'

bmr-groups Integer

Number of clusters of samples with comparable BMRs (See DESCRIPTION)

Default value '1' if not specified

show-skipped Boolean

Report each skipped mutation, not just how many

Default value 'false' (--noshow-skipped) if not specified

noshow-skipped Boolean

Make show-skipped 'false'

separate-truncations Boolean

Group truncational mutations as a separate category

Default value 'false' (--noseparate-truncations) if not specified

noseparate-truncations Boolean

Make separate-truncations 'false'

merge-concurrent-muts Boolean

Multiple mutations of a gene in the same sample are treated as 1

Default value 'false' (--nomerge-concurrent-muts) if not specified

nomerge-concurrent-muts Boolean

Make merge-concurrent-muts 'false'

genes-to-ignore Text

Comma-delimited list of genes to ignore for background mutation rates


Given a mutation list (MAF), and per-gene coverage data calculated using "music bmr calc-covg"), this script calculates overall Background Mutation Rate (BMR) and BMRs in the categories of AT/CG/CpG Transitions, AT/CG/CpG Transversions, and Indels. An optional category for truncational mutations can also be specified. The script generates a file with per-gene mutation rates that can be used with the tool that tests for significantly mutated genes (music smg).


The regions of interest (ROIs) of each gene are typically regions targeted for sequencing or are merged exon loci (from multiple transcripts) of genes with 2-bp flanks (splice junctions). ROIs from the same chromosome must be listed adjacent to each other in this file. This allows the underlying C-based code to run much more efficiently and avoid re-counting bases seen in overlapping ROIs (for overall covered base counts). For per-gene base counts, an overlapping base will be counted each time it appears in an ROI of the same gene. To avoid this, be sure to merge together overlapping ROIs of the same gene. BEDtools' mergeBed can help if used per gene.
The reference sequence in FASTA format. If a reference sequence index is not found next to this file (a .fai file), it will be created.
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. Additional columns like clinical data are allowed, but ignored. 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).
Ideally, we want to test the mutation rate (MR) of a gene in a sample against the background mutation rate (BMR) across that sample. But if the BMRs of some samples are comparable, we can instead test the MR of a gene across a group of samples with comparable BMR, against the overall BMR of that group. This argument specifies how many such groups you want to cluster samples into. By default, it is assumed that all samples have comparable BMRs (bmr-groups = 1).
This should be the same output directory used when running "music bmr calc-covg". The following outputs of this script will also be created/written: overall_bmrs: File containing categorized overall background mutation rates. gene_mrs: File containing categorized per-gene mutation rates.
A comma-delimited list of genes to ignore for overall BMR calculations. List genes that are known factors in this disease and whose mutations should not be classified as background.


Copyright (C) 2010-2011 Washington University in St. Louis.

It is released under the Lesser GNU Public License (LGPL) version 3. See the associated LICENSE file in this distribution.


 Cyriac Kandoth, Ph.D.


genome-music-bmr(1), genome-music(1), genome(1)