Svim

Latest version: v2.0.0

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1.3.0

Changelog:
- Improve BND detection by detecting BNDs connecting opposite strands
- Add INFO:ZMWS tag to output VCF with number of supporting PacBio wells (enables filtering bad calls from only a few ZMWs)
- Add sequence alleles for INS (using the insertion sequence from a random supporting read)
- Add FORMAT:CN tag for tandem duplications
- Bugfixes

1.2.0

Changelog:
- add option `--sequence_alleles` to output sequence instead of symbolic alleles in VCF
- add option `--insertion_sequences` to output insertion sequences in VCF
- add option `--read_names` to output names of supporting reads in VCF

1.1.1

Changelog:
- Output breakends (BND) in VCF file
- Detect large tandem duplications even if they are not spanned by a single read (add flag `not_fully_covered`)
- Add new command line option to skip genotyping
- Make VCF output more flexible:
- Let user choose which SV types to include in VCF output
- Let user choose how to represent tandem and interspersed duplications (either as DUP or as INS)
- Add scatter plot of read support for reference and variant allele (see below)

![sv-genotypes-q5](https://user-images.githubusercontent.com/6477692/59920858-2d3daf80-942c-11e9-89ef-aa567429b788.png)

1.0.2

Changelog:
- change default value for maximum distance in partitioning from 10kb to 1kb
- fix coordinates of BNDs (from 0-based to 1-based)
- fix sorting of VCF records
- add verbose mode which prints ignored partitions to log

1.0.1

Changelog:
- reduce memory consumption substantially

1.0.0

Changelog:
- add genotyping of translocation breakpoints (BNDs)
- bugfixes

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