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0.9.2 release
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sigven committed Jun 30, 2021
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## CHANGELOG

#### 0.9.2 - June 30th 2021

* Data updates: ClinVar, GWAS catalog, CIViC, CancerMine, dbNSFP, KEGG, ChEMBL, Disease Ontology/EFO, Open Targets Platform, UniProt KB, GENCODE
* Software upgrades: R v4.1, Bioconductor v3.13, VEP (104) ++

##### Changed
* TOML-based configuration for PCGR is abandoned, all options to PCGR are now configured through command-line parameters
* __NOTE__: We recommend to turn on `--show_noncoding` and `--vcf2maf` (prevously turned on by default in TOML). For tumor-only runs, we recommend to include `--exclude_dbsnp_nonsomatic` and `exclude_nonexonic`

##### Added
* Command-line options
* Previously set in TOML file)
* Allelic support
* `--tumor_dp_tag`
* `--tumor_af_tag`
* `--control_dp_tag`
* `--control_af_tag`
* `--call_conf_tag`
* Tumor-only options
* `--maf_onekg_eur`
* `--maf_onekg_amr`
* `--maf_onekg_afr`
* `--maf_onekg_eas`
* `--maf_onekg_sas`
* `--maf_onekg_global`
* `--maf_gnomad_nfe`
* `--maf_gnomad_asj`
* `--maf_gnomad_fin`
* `--maf_gnomad_oth`
* `--maf_gnomad_amr`
* `--maf_gnomad_afr`
* `--maf_gnomad_eas`
* `--maf_gnomad_sas`
* `--maf_gnomad_global`
* `--exclude_pon`
* `--exclude_likely_het_germline`
* `--exclude_likely_hom_germline`
* `--exclude_dbsnp_nonsomatic`
* `--exclude_nonexonic`
* `--report_theme`
* `--preserved_info_tags` (previously `custom_tags (TOML)`)
* `--show_noncoding` (previously `list_noncoding (TOML)`)
* `--vcfanno_n_proc` (previously `n_vcfanno_proc (TOML)`)
* `--vep_n_forks` (previously `n_vep_forks (TOML)`)
* `--vep_pick_order`
* `--vep_no_intergenic` (previously `vep_skip_intergenic (TOML)`)
* `--vcf2maf`
* New options
* `--report_nonfloating_toc` (**NEW**) - add the TOC at the top of the HTML report, not floating at the left of the document
* `--cpsr_report` (**NEW**) - add a dedicated section in PCGR with main germline findings from CPSR analysis - (use the gzipped JSON output from CPSR as input)
* `--vep_regulatory` (**NEW**) - append regulatory annotations to variants (TF binding sites etc.)
* `--include_artefact_signatures` (**NEW**) - include sequencing artefacts in the reference collection of mutational signatures (COSMIC v3.2)


##### Fixed
* Bug in writing (large) report contents to JSON (issue [#118](https://github.com/sigven/pcgr/issues/118))
* Bug (typo) in merge of clinical evidence items from different sources (CIVIC + CGI) (issue [#126](https://github.com/sigven/pcgr/issues/126))
* Bug in value box for number of (high-confident) kataegis events - rmarkdown (issue [#122](https://github.com/sigven/pcgr/issues/122))
* Bug in value box for tumor purity/ploidy -rmarkdown (issue [#129](https://github.com/sigven/pcgr/issues/129))

##### Removed
* Command-line options
* `--conf` - TOML-based configuration file

#### 0.9.1 - November 30th 2020
* Data updates: ClinVar, GWAS catalog, CIViC, CancerMine, dbNSFP, KEGG, ChEMBL/DGIdb, Disease Ontology, Experimental Factor Ontology

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