DOKK / manpages / debian 12 / cnvkit / cnvkit-segment.1.en
CNVKIT_SEGMENT(1) User Commands CNVKIT_SEGMENT(1)

cnvkit_segment - Infer copy number segments from the given coverage table.

usage: cnvkit segment [-h] [-o FILENAME] [-d DATAFRAME]

[-m {cbs,flasso,haar,none,hmm,hmm-tumor,hmm-germline}]
[-t THRESHOLD] [--drop-low-coverage] [--drop-outliers FACTOR] [--rscript-path PATH] [-p [PROCESSES]] [--smooth-cbs] [-v FILENAME] [-i SAMPLE_ID] [-n NORMAL_ID] [--min-variant-depth MIN_VARIANT_DEPTH] [-z [ALT_FREQ]] filename

Bin-level log2 ratios (.cnr file), as produced by 'fix'.

show this help message and exit
Output table file name (CNR-like table of segments, .cns).
File name to save the raw R dataframe emitted by CBS or Fused Lasso. (Useful for debugging.)
Segmentation method (see docs), or 'none' for chromosome arm-level averages as segments. [Default: cbs]
Significance threshold (p-value or FDR, depending on method) to accept breakpoints during segmentation. For HMM methods, this is the smoothing window size.
Drop very-low-coverage bins before segmentation to avoid false-positive deletions in poor-quality tumor samples.
Drop outlier bins more than this many multiples of the 95th quantile away from the average within a rolling window. Set to 0 for no outlier filtering. [Default: 10]
Path to the Rscript executable to use for running R code. Use this option to specify a non-default R installation. [Default: Rscript]
Number of subprocesses to segment in parallel. Give 0 or a negative value to use the maximum number of available CPUs. [Default: use 1 process]
Perform an additional smoothing before CBS segmentation, which in some cases may increase the sensitivity. Used only for CBS method.

VCF file name containing variants for segmentation by allele frequencies.
Specify the name of the sample in the VCF (-v/--vcf) to use for b-allele frequency extraction and as the default plot title.
Corresponding normal sample ID in the input VCF (-v/--vcf). This sample is used to select only germline SNVs to plot b-allele frequencies.
Minimum read depth for a SNV to be displayed in the b-allele frequency plot. [Default: 20]
Ignore VCF's genotypes (GT field) and instead infer zygosity from allele frequencies. [Default if used without a number: 0.25]
September 2022 cnvkit segment 0.9.9