PlotModeledSegments

Creates plots of denoised and segmented copy-ratio and minor-allele-fraction estimates

Category Copy Number Variant Discovery

Overview

Creates plots of denoised and segmented copy-ratio and minor-allele-fraction estimates.

Inputs

Modeled-segments file from {@link ModelSegments}.
(Optional) Denoised-copy-ratios file from {@link DenoiseReadCounts}. If allelic counts are not provided, then this is required.
(Optional) Allelic-counts file containing the counts at sites genotyped as heterozygous (.hets.tsv output of {@link ModelSegments}). If denoised copy ratios are not provided, then this is required.
Sequence-dictionary file. This determines the order and representation of contigs in the plot.
Output prefix. This is used as the basename for output files.
Output directory. This will be created if it does not exist.

Outputs

Modeled-segments-plot file. This shows the input denoised copy ratios and/or alternate-allele fractions as points, as well as box plots for the available posteriors in each segment. The colors of the points alternate with the segmentation. Copy ratios are only plotted up to the maximum value specified by the argument {@code maximum-copy-ratio}. Point sizes can be specified by the arguments {@code point-size-copy-ratio} and {@code point-size-allele-fraction}.

Usage examples

     gatk PlotModeledSegments \
          --denoised-copy-ratios tumor.denoisedCR.tsv \
          --allelic-counts tumor.hets.tsv \
          --segments tumor.modelFinal.seg \
          --sequence-dictionary contigs_to_plot.dict \
          --output-prefix tumor \
          -O output_dir

     gatk PlotModeledSegments \
          --denoised-copy-ratios tumor.denoisedCR.tsv \
          --segments tumor.modelFinal.seg \
          --sequence-dictionary contigs_to_plot.dict \
          --output-prefix tumor \
          -O output_dir

     gatk PlotModeledSegments \
          --allelic-counts normal.hets.tsv \
          --segments normal.modelFinal.seg \
          --sequence-dictionary contigs_to_plot.dict \
          --output-prefix normal \
          -O output_dir

@author Samuel Lee <slee@broadinstitute.org>

PlotModeledSegments specific arguments

This table summarizes the command-line arguments that are specific to this tool. For more details on each argument, see the list further down below the table or click on an argument name to jump directly to that entry in the list.

Argument name(s)	Default value	Summary
Required Arguments
--output -O		Output directory. This will be created if it does not exist.
--output-prefix		Prefix for output filenames.
--segments		Input file containing modeled segments (output of ModelSegments).
--sequence-dictionary		File containing a sequence dictionary, which specifies the contigs to be plotted and their relative lengths. The sequence dictionary must be a subset of those contained in other input files. Contigs will be plotted in the order given. Contig names should not include the string "CONTIG_DELIMITER". The tool only considers contigs in the given dictionary for plotting, and data for contigs absent in the dictionary generate only a warning. In other words, you may modify a reference dictionary for use with this tool to include only contigs for which plotting is desired, and sort the contigs to the order in which the plots should display the contigs.
Optional Tool Arguments
--allelic-counts		Input file containing allelic counts at heterozygous sites (.hets.tsv output of ModelSegments).
--arguments_file		read one or more arguments files and add them to the command line
--denoised-copy-ratios		Input file containing denoised copy ratios (output of DenoiseReadCounts).
--gcs-max-retries -gcs-retries	20	If the GCS bucket channel errors out, how many times it will attempt to re-initiate the connection
--gcs-project-for-requester-pays		Project to bill when accessing "requester pays" buckets. If unset, these buckets cannot be accessed. User must have storage.buckets.get permission on the bucket being accessed.
--help -h	false	display the help message
--maximum-copy-ratio	4.0	Maximum copy ratio to be plotted. If Infinity, the maximum copy ratio will be automatically determined.
--minimum-contig-length	1000000	Threshold length (in bp) for contigs to be plotted. Contigs with lengths less than this threshold will not be plotted. This can be used to filter out mitochondrial contigs, unlocalized contigs, etc.
--point-size-allele-fraction	0.4	Point size to use for plotting allele-fraction points.
--point-size-copy-ratio	0.2	Point size to use for plotting copy-ratio points.
--version	false	display the version number for this tool
Optional Common Arguments
--gatk-config-file		A configuration file to use with the GATK.
--QUIET	false	Whether to suppress job-summary info on System.err.
--tmp-dir		Temp directory to use.
--use-jdk-deflater -jdk-deflater	false	Whether to use the JdkDeflater (as opposed to IntelDeflater)
--use-jdk-inflater -jdk-inflater	false	Whether to use the JdkInflater (as opposed to IntelInflater)
--verbosity	INFO	Control verbosity of logging.
Advanced Arguments
--showHidden	false	display hidden arguments

Argument details

Arguments in this list are specific to this tool. Keep in mind that other arguments are available that are shared with other tools (e.g. command-line GATK arguments); see Inherited arguments above.

--allelic-counts

Input file containing allelic counts at heterozygous sites (.hets.tsv output of ModelSegments).

File null

--arguments_file

read one or more arguments files and add them to the command line

List[File] []

--denoised-copy-ratios

Input file containing denoised copy ratios (output of DenoiseReadCounts).

File null

--gatk-config-file

A configuration file to use with the GATK.

String null

--gcs-max-retries / -gcs-retries

If the GCS bucket channel errors out, how many times it will attempt to re-initiate the connection

int 20 [ [ -∞ ∞ ] ]

--gcs-project-for-requester-pays

Project to bill when accessing "requester pays" buckets. If unset, these buckets cannot be accessed. User must have storage.buckets.get permission on the bucket being accessed.

String ""

--help / -h

display the help message

boolean false

--maximum-copy-ratio

Maximum copy ratio to be plotted. If Infinity, the maximum copy ratio will be automatically determined.

double 4.0 [ [ 0 ∞ ] ]

--minimum-contig-length

Threshold length (in bp) for contigs to be plotted. Contigs with lengths less than this threshold will not be plotted. This can be used to filter out mitochondrial contigs, unlocalized contigs, etc.

int 1000000 [ [ 0 ∞ ] ]

--output / -O

Output directory. This will be created if it does not exist.

R File null

--output-prefix

Prefix for output filenames.

R String null

--point-size-allele-fraction

Point size to use for plotting allele-fraction points.

double 0.4 [ [ 0 ∞ ] ]

--point-size-copy-ratio

Point size to use for plotting copy-ratio points.

double 0.2 [ [ 0 ∞ ] ]

--QUIET

Whether to suppress job-summary info on System.err.

Boolean false

--segments

Input file containing modeled segments (output of ModelSegments).

R File null

--sequence-dictionary / -sequence-dictionary

File containing a sequence dictionary, which specifies the contigs to be plotted and their relative lengths. The sequence dictionary must be a subset of those contained in other input files. Contigs will be plotted in the order given. Contig names should not include the string "CONTIG_DELIMITER". The tool only considers contigs in the given dictionary for plotting, and data for contigs absent in the dictionary generate only a warning. In other words, you may modify a reference dictionary for use with this tool to include only contigs for which plotting is desired, and sort the contigs to the order in which the plots should display the contigs.

R File null