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sigven committed May 31, 2024
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6 changes: 3 additions & 3 deletions README.md
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Expand Up @@ -6,9 +6,9 @@ The CPSR workflow is integrated with the framework that underlies the [Personal

*CPSR* accepts a query file from a single case/patient, containing raw germline variant calls encoded in the [VCF](https://samtools.github.io/hts-specs/VCFv4.2.pdf) format (i.e. SNVs/InDels). A comprehensive set of **virtual cancer predisposition gene panels** harvested from the [Genomics England PanelApp](https://panelapp.genomicsengland.co.uk/) allows the user to flexibly put a restriction on which genes and findings are displayed in the cancer predisposition report.

Snapshots of sections in the cancer predisposition genome report:
Snapshots of sections in the cancer predisposition genome report (artificial sample, with more findings than usual) are shown below:

![CPSR views](pkgdown/assets/img/cpsr_views.png)
![CPSR views](pkgdown/assets/img/cpsr_sc.png)

## News

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## Example report

[![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.6223386.svg)](https://doi.org/10.5281/zenodo.6223386)
[![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.11401491.svg)](https://doi.org/10.5281/zenodo.11401491)

## Getting started

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4 changes: 2 additions & 2 deletions pkgdown/index.md
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Expand Up @@ -18,7 +18,7 @@ The workflow is integrated with the framework that underlies [Personal Cancer Ge

Snapshots of sections in the cancer predisposition genome report:

![](img/cpsr_views.png)
![](img/cpsr_sc.png)

<br>

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### Example report

[![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.6223386.svg)](https://doi.org/10.5281/zenodo.6223386)
[![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.11401491.svg)](https://doi.org/10.5281/zenodo.11401491)

### Getting started

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4 changes: 2 additions & 2 deletions vignettes/CHANGELOG.Rmd
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- Users need to download an assembly-specific VEP cache separately from PCGR/CPSR, and provide its path to the new required argument `--vep_dir` in the `cpsr` command
- Re-engineered data bundle generation pipeline
- Improved data bundle documentation
- An HTML report with an overview of the contents of the data bundle is shipped with the reference data itself, also available [here](https://rpubs.com/sigven/pcgr_refdata).
- An HTML report with an overview of the contents of the data bundle is shipped with the reference data itself, also available [here (grch38)](https://rpubs.com/sigven/pcgr_refdata).
- Cleaned up code base for reporting and classification
- A multi-sheet Excel workbook output with variant classifications and biomarker findings are provided, amenable e.g. for aggregation of results across samples
- A multi-sheet Excel workbook output with variant classifications and biomarker findings are provided, suitable e.g. for aggregation of results across samples
- argument name changes to `cpsr`:
- `--pcgr_dir` is now named `--refdata_dir`
- `--clinvar_ignore_noncancer` is now named `--clinvar_report_noncancer`, meaning that variants found in ClinVar, yet attributed to _non-cancer related_ phenotypes, are now excluded from reporting by default)
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