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Version 0.7.0

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@etal etal released this 09 Sep 05:34
· 1306 commits to master since this release

CNVkit now depends on pandas, SciPy, and PyVCF. The internals were largely rewritten, so please report any bugs or other regressions you find.

Documentation is much improved.

export:

  • VCF format is supported (#5, #41). The generated VCFs are compatible with many third-party tools, including development versions of MetaSV. (Thanks @chapmanb)
  • Removed the "freebayes" sub-command; use "export bed" instead.

segment:

  • The names of genes (or other targeted loci) covered by each segment are now included in the output .cns file.
  • The p-value or q-value threshold (depending on the method) can now be specified with -t/--threshold.
  • The "haar" method works properly now (#6). This segmentation algorithm is implemented in Python and does not require R to run. It is a bit faster than CBS, but not as accurate.

loh:

  • Plot variant allele frequencies (VAFs) as their actual values, 0 to 1, instead of the mirrored b-allele frequency (0.5 to 1). Draw segment mean allele frequencies separately above and below 0.5. This matches how the equivalent SNP array data are typically viewed.

antitarget:

  • Generate off-target bins for all chromosomes present in the "access" BED file, not just those where targeted regions occur. (#37)

coverage:

  • A minimum read mapping quality (MAPQ) value can now be specified with -q/--min-mapq. The default value is 0, i.e. reads are no longer excluded for low MAPQ or ambiguous mapping location. This should generally improve calling accuracy and avoid some spurious deletion calls.