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GENOME-MUSIC-BMR-CALC-BMR(1p) User Contributed Perl Documentation GENOME-MUSIC-BMR-CALC-BMR(1p)
 

genome music bmr calc-bmr

NAME

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

VERSION

This document describes genome music bmr calc-bmr version 0.04 (2013-05-14 at 16:03:04)

SYNOPSIS

genome music bmr calc-bmr --roi-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

REQUIRED ARGUMENTS

roi-file Text
Tab delimited list of ROIs [chr start stop gene_name] (See DESCRIPTION)
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

OPTIONAL ARGUMENTS

skip-non-coding Boolean
Skip non-coding mutations from the provided MAF file
Default value 'true' if not specified
skip-silent Boolean
Skip silent mutations from the provided MAF file
Default value 'true' if not specified
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
separate-truncations Boolean
Group truncational mutations as a separate category
Default value 'false' (--noseparate-truncations) if not specified
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
genes-to-ignore Text
Comma-delimited list of genes to ignore for background mutation rates

DESCRIPTION

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).

ARGUMENTS

--roi-file
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.
--reference-sequence
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.
--bam-list
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).
--bmr-groups
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).
--output-dir
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.
--genes-to-ignore
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.

LICENSE

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.

AUTHORS

 Cyriac Kandoth, Ph.D.

SEE ALSO

genome-music-bmr(1), genome-music(1), genome(1)
2013-05-14 perl v5.14.2