v1.0.0
Date: 2022-02-25
-
Data updates
- ClinVar
- GWAS catalog
- CIViC
- CancerMine
- KEGG
- Disease Ontology/EFO
- Open Targets Platform,
- UniProt KB
- GENCODE
Improved detection of secondary variant findings
CPSR is now implemented as a dedicated R package, depending also on the pcgrr R package. Running the complete CPSR workflow relies upon installation of PCGR.
v0.6.2
Date: 2021-06-30
Data updates: ClinVar, PanelApp, GWAS catalog, CIViC, CancerMine, dbNSFP, KEGG, Disease Ontology/EFO, Open Targets Platform, UniProt KB, GENCODE
Software upgrades: R v4.1, Bioconductor v3.13, VEP (104) ++
Improved GWAS track for cancer phenotypes
Changed
- TOML-based configuration for CPSR is abandoned, all options to CPSR are now configured through the command-line parameters
Added
-
Command-line options
- Previously set in TOML file
--pop_gnomad
--report_theme
-
--preserved_info_tags
(previouslycustom_tags
(TOML)) --custom_list_name
--gwas_p_value
-
--vcfanno_n_proc
(previouslyn_vcfanno_proc (TOML)
) -
--vep_n_forks
(previouslyn_vep_forks (TOML)
) --vep_pick_order
-
--vep_no_intergenic
(previouslyvep_skip_intergenic (TOML)
)
- New options
-
--report_nonfloating_toc
(NEW) - add the TOC at the top of the HTML report, not floating at the left of the document -
--report_table_display
(NEW) - choose level of comprehensiveness in interactive data tables (full versus light (default))
-
- Previously set in TOML file
Improved support for noncoding variant interpretation, primarily in the context of variants of uncertain significance (VUS). Annotations will show variants that disrupt/create microRNA target sites (dbMTS), and variants that overlap transcription factor binding sites (critical and non-critical positions). Genomic conservation scores (GERP) are also provided.
Approx. 100 protein-coding genes have been appended to the CPSR superpanel (panel 0)
Fixed
- Code typo (issue #33)
v0.6.1
- Date: 2020-11-30
Added
- Increased number of genes in panel 0: All genes in 42 virtual panels related to cancer conditions in Genomics England PanelApp now also contributes toward panel 0
- Added option in main script
(
--clinvar_ignore_noncancer
) that will exclude any query variants (from HTML report and TSV/JSON output) that have been reported and classified for non-cancer related conditions only (in ClinVar)- this to exclude variants associated with non-cancer related phenotypes
- For the variant biomarker table, the resolution of the reported biomarker mapping is highlighted with designated background colors for the gene (exact/codon - black vs. exon/gene - orange)
Fixed
- Bug in GWAS hits retrieval, Issue #30
- Custom VCF tags (as specified by user in configuration file) not shown in output TSV files
Changed
- Removed DisGeNET annotations from output (associations from Open Targets Platform serve same purpose)
- Renamed report section Genomic Biomarkers to Variant Biomarkers
- Option
--incidental_findings
changed back to--secondary_findings
- recommended term to use according to ACMG - Removed MOD (mechanism-of-disease) from TSV output file
v0.6.0rc
Date: 2020-09-24
Data updates: ClinVar, GWAS catalog, GENCODE, CIViC, CancerMine, UniProt KB, dbNSFP, Pfam, KEGG, Open Targets Platform, Genomics England PanelApp
Software updates: VEP 101
Changed
- All arguments to
cpsr.py
are now non-positional - Arguments to
cpsr.py
are divided into two groups: required and optional -
secondary_findings
is now coinedincidental_findings
- Option gwas:gwas_hits in CPSR
configuration file is now optional argument
--gwas_findings
incpsr.py
- Option classification:clinvar_cpsr in CPSR
configuration file is now optional argument
--classify_all
incpsr.py
- Option maf_imits:maf_gnomad in CPSR
configuration file is now optional argument
--maf_upper_threshold
incpsr.py
- Option secondary_findings:show_sf in CPSR
configuration file is now optional argument
--incidental_findings
incpsr.py
- Virtual panels is now displayed through HTML (previously static ggplot plot)
-
Settings section of report is now divived into
three:
- Sample metadata
- Report configuration
- Virtual panel
- Classifications of genes as tumor suppressors/oncogenes are now based on a combination of CancerMine citation count and presence in Network of Cancer Genes
Added
- Missing ACMG criterion for classification of silent and intronic variants outside of splice regions (ACMG_BP7)
- Missing ACMG criterion for classification of variants in promoter and untranslated regions (ACMG_BP3)
- Possibility to create custom virtual panel - any combination of
genes from panel 0 provided as a single-column text file with argument
--custom_list
- Ensured that non-empty datatables pr. tier (ClinVar and Non-ClinVar) are set as the active tab
- Improved documentation of variant classification in the References section
- DOIs available for all references
v0.5.2
- Date: 2019-11-18
Changed
- Definition of pathogenic range (wrt to variant frequency) takes into account population- and position-specific allele numbers - no longer defined only by allele counts (i.e. AC) but by AC and AN
- Moved virtual panel identifier from positional argument to optional
argument (
--panel_id
) incpsr.py
v0.5.1
- Date: 2019-10-14
Fixed
- Bug in
cpsr_validate_input.py
, GitHub Issue - Bug when there are zero variants with a ‘PASS’ status in VCF - omitting report generation
v0.5.0
- Date: 2019-09-23
Fixed
- Bug in implementation of ACMG criteria; genes without a known loss-of-function mechanism were handled inappropriately
- Bug in assignment of heterozygous/homozygous states (input VCF)
- Bug in implementation of ACMG_PS1 - Same amino acid change as previously pathogenic variant
- Improved consequence prioritisation for variants with transcript consequences in multiple, distinct cancer predisposition genes
- Upper MAF threshold (as given by user) only applied for unclassified (i.e. non-ClinVar variants)
- Handling of non-coding variants (synonymous, upstream_variants) in the report, no longer excluded