Version 0.6.0
Added two new commands, call
and segmetrics
, and a new export
format, BED.
segmetrics
:
- Calculates summary statistics of the residual bin-level log2 ratio estimates from the segment means, similar to the existing
metrics
command, but for each segment individually. Results are output in the same format as the CNVkit segmentation file (.cns), with the stat names and calculated values printed in the "gene" column. - Supported stats:
- standard deviation, median absolute deviation, inter-quartile range, Tukey's biweight midvariance (as in
metrics
); - confidence interval, estimated by bootstrap;
- prediction interval, estimated by the range between the 2.5-97.5 percentiles of bin-level log2 ratio values within the segment.
- standard deviation, median absolute deviation, inter-quartile range, Tukey's biweight midvariance (as in
- Thanks to @mjafin for suggesting this feature (#28).
call
:
- Given segmented log2 ratio estimates (.cns file), round the copy ratio estimates to integer values using either:
- A list of threshold log2 values for each copy number state, or
- Some algebra, given known tumor cell fraction and normal ploidy. (This was previously available through the
export freebayes
command, see below.)
- The output is another .cns file, where the values in the
log2
column are still log2-transformed, but represent integers in log2 scale -- e.g. a neutral diploid state is represented as "0.0", not the integer 2. These output files are still compatible with the other CNVkit commands that accept .cns files, and can be plotted the same way.
export bed
:
- New
bed
format supporting the same features asexport freebayes
that were not moved into thecall
command (see above). The output BED file is still compatible with the FreeBayes--cnv-map
option. In addition,export bed
has the new option--show-neutral
to also output neutral-CN segments/regions, in addition to the CNV regions output by default. - The
export freebayes
sub-command is deprecated but still available in this release; it will be removed in the next release. This command supported the tumor-purity adjustment now implemented in thecall
command. The recommended approach is to instead runcall
first on each .cns file, and thenexport bed
on all the adjusted .cns files to get an equivalent BED file compatible with FreeBayes--cnv-map
option.
Smaller changes:
gainloss
: Reduced the default log2 ratio threshold from .5 to .2import-picard
: Use the un-normalized mean coverage instead of the normalized coverage of each target as the log2 coverage values in the output .cnn file. This matches the output of thecoverage
command; CNVkit normalizes coverages later in the pipeline.- Some internal refactoring. Please report any bugs, real or perceived, on our GitHub issue tracker.