Releases: sigven/pcgr
Releases · sigven/pcgr
Tier assignment fix
- Fixed reported bugs in tier assignment of variants
Python3 + grch38
- Updated data sources
- Enabling specification of tumor type of input sample
- New tier system for classification of variants (ACMG-like)
- VCF validation can be turned off
- Tumor DP/AF presets
- JSON dump of report content
- GRCh38 support
- Runs under Python3
Option fix
Corrects a bug with propagation of default options
v0.5.2
PASS variants only
0.5.1.2 vep fail option
ClinVar fix
- fixed a bug in new ClinVar VCF
- added VEP option --failed
VCF validation
- fixed a bug with VCF validation
VEP update + TOML
- Updated version of VEP (v90)
- Updated versions of ClinVar, Uniprot KB, CIViC, CBMDB
- Removal of ExAC (replaced by gnomAD), removal of COSMIC due to licensing restrictions
- Users can analyze samples run without matching control (i.e. tumor-only)
- PCGR pipeline is now configured through a TOML-based configuration file
- Bug fixes / general speed improvements
vcfanno update
- update vcfanno to v 0.2.8