diff --git a/README.md b/README.md index 69786c4c..2c60ff33 100755 --- a/README.md +++ b/README.md @@ -8,14 +8,16 @@ The Personal Cancer Genome Reporter (PCGR) is a stand-alone software package for ### News -* _November 14th 2017_: **0.5.0 release** +* _November 14th 2017_: **0.5.1 release** * 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](https://github.com/toml-lang/toml) * Bug fixes / general speed improvements - * _Work in progress (0.5.1 release): Export of report data through JSON_ + * _Work in progress: Export of report data through JSON_ +* _November 14th 2017_: **0.5.1 release** + * Bug fixing (VCF validation) ### Example reports * [Report for a breast tumor sample (TCGA)](http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.0.pcgr.html) @@ -30,7 +32,7 @@ If you use PCGR, please cite our preprint paper: Sigve Nakken, Ghislain Fournous, Daniel Vodák, Lars Birger Aaasheim, Ola Myklebost, and Eivind Hovig. __Personal Cancer Genome Reporter: Variant Interpretation Report For Precision Oncology__ (2017). bioRxiv. doi:[10.1101/122366](https://doi.org/10.1101/122366) -### Annotation resources included in PCGR (v0.5.0) +### Annotation resources included in PCGR (v0.5.1) * [VEP v90](http://www.ensembl.org/info/docs/tools/vep/index.html) - Variant Effect Predictor release 90 (GENCODE v27 as the gene reference dataset) * [dBNSFP v3.4](https://sites.google.com/site/jpopgen/dbNSFP) - Database of non-synonymous functional predictions (March 2017) @@ -71,14 +73,14 @@ A local installation of Python (it has been tested with [version 2.7.13](https:/ #### STEP 2: Download PCGR -1. Download and unpack the [latest software release (0.5.0)](https://github.com/sigven/pcgr/releases/latest) +1. Download and unpack the [latest software release (0.5.1)](https://github.com/sigven/pcgr/releases/latest) 2. Download and unpack the data bundle (approx. 16Gb) in the PCGR directory - * Download [the accompanying data bundle](https://drive.google.com/file/d/1ZKDef-dsRA4rMv5jXU8vrBj5PvwOZ3vb/) from Google Drive to `~/pcgr-X.X` (replace _X.X_ with the version number, e.g `~/pcgr-0.5.0`) + * Download [the accompanying data bundle](https://drive.google.com/file/d/1ZKDef-dsRA4rMv5jXU8vrBj5PvwOZ3vb/) from Google Drive to `~/pcgr-X.X` (replace _X.X_ with the version number, e.g `~/pcgr-0.5.1`) * Unpack the data bundle, e.g. through the following Unix command: `gzip -dc pcgr.databundle.GRCh37.YYYYMMDD.tgz | tar xvf -` A _data/_ folder within the _pcgr-X.X_ software folder should now have been produced -3. Pull the [PCGR Docker image (0.5.0)](https://hub.docker.com/r/sigven/pcgr/) from DockerHub (approx 4.2Gb): - * `docker pull sigven/pcgr:0.5.0` (PCGR annotation engine) +3. Pull the [PCGR Docker image (0.5.1)](https://hub.docker.com/r/sigven/pcgr/) from DockerHub (approx 4.2Gb): + * `docker pull sigven/pcgr:0.5.1` (PCGR annotation engine) #### STEP 3: Input preprocessing @@ -124,7 +126,7 @@ A tumor sample report is generated by calling the Python script __pcgr.py__, whi positional arguments: pcgr_dir PCGR base directory with accompanying data directory, - e.g. ~/pcgr-0.5.0 + e.g. ~/pcgr-0.5.1 output_dir Output directory configuration_file PCGR configuration file (TOML format) sample_id Tumor sample/cancer genome identifier - prefix for @@ -158,9 +160,9 @@ The configuration file, formatted using [TOML](https://github.com/toml-lang/toml The _examples_ folder contain input files from two tumor samples sequenced within TCGA. It also contains a PCGR configuration file. A report for a colorectal tumor case can be generated by running the following command in your terminal window: -`python pcgr.py --input_vcf ~/pcgr-0.5.0/examples/tumor_sample.COAD.vcf.gz` -`--input_cna ~/pcgr-0.5.0/examples/tumor_sample.COAD.cna.tsv` -` ~/pcgr-0.5.0/examples ~/pcgr-0.5.0/examples/pcgr_configuration.toml tumor_sample.COAD` +`python pcgr.py --input_vcf ~/pcgr-0.5.1/examples/tumor_sample.COAD.vcf.gz` +`--input_cna ~/pcgr-0.5.1/examples/tumor_sample.COAD.cna.tsv` +` ~/pcgr-0.5.1/examples ~/pcgr-0.5.1/examples/pcgr_configuration.toml tumor_sample.COAD` This command will run the Docker-based PCGR workflow and produce the following output files in the _examples_ folder: diff --git a/docs/_build/doctrees/environment.pickle b/docs/_build/doctrees/environment.pickle index 63bc3538..ede4fe0f 100644 Binary files a/docs/_build/doctrees/environment.pickle and b/docs/_build/doctrees/environment.pickle differ diff --git a/docs/_build/doctrees/getting_started.doctree b/docs/_build/doctrees/getting_started.doctree index 8ac4480c..aadf8c6d 100644 Binary files a/docs/_build/doctrees/getting_started.doctree and b/docs/_build/doctrees/getting_started.doctree differ diff --git a/docs/_build/doctrees/output.doctree b/docs/_build/doctrees/output.doctree index 5e28c661..50a2e8ce 100644 Binary files a/docs/_build/doctrees/output.doctree and b/docs/_build/doctrees/output.doctree differ diff --git a/docs/_build/html/_sources/getting_started.rst.txt b/docs/_build/html/_sources/getting_started.rst.txt index 979d70a9..c54caa5a 100644 --- a/docs/_build/html/_sources/getting_started.rst.txt +++ b/docs/_build/html/_sources/getting_started.rst.txt @@ -55,7 +55,7 @@ Download PCGR ^^^^^^^^^^^^^ - Download and unpack the `latest software release - (0.5.0) `__ + (0.5.1) `__ - Download and unpack the data bundle (approx. 16Gb) in the PCGR directory @@ -63,7 +63,7 @@ Download PCGR - Download `the accompanying data bundle `__ from Google Drive to ``~/pcgr-X.X`` (replace *X.X* with the - version number, e.g. ``~/pcgr-0.5.0``) + version number, e.g. ``~/pcgr-0.5.1``) - Decompress and untar the bundle, e.g. through the following Unix command: ``gzip -dc pcgr.databundle.GRCh37.YYYYMMDD.tgz | tar xvf -`` @@ -72,10 +72,10 @@ Download PCGR have been produced - Pull the `PCGR Docker image - - 0.5.0 `__ from DockerHub + 0.5.1 `__ from DockerHub (approx 4.2Gb) : - - ``docker pull sigven/pcgr:0.5.0`` (PCGR annotation engine) + - ``docker pull sigven/pcgr:0.5.1`` (PCGR annotation engine) Run test - generation of clinical report for a cancer genome ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ @@ -94,7 +94,7 @@ A tumor sample report is generated by calling the Python script positional arguments: pcgr_dir PCGR base directory with accompanying data directory, - e.g. ~/pcgr-0.5.0 + e.g. ~/pcgr-0.5.1 output_dir Output directory configuration_file PCGR configuration file (TOML format) sample_id Tumor sample/cancer genome identifier - prefix for @@ -135,9 +135,9 @@ sequenced within TCGA. It also contains a PCGR configuration file. A report for a colorectal tumor case can be generated by running the following command in your terminal window: -``python pcgr.py --input_vcf ~/pcgr-0.5.0/examples/tumor_sample.COAD.vcf.gz`` -``--input_cna ~/pcgr-0.5.0/examples/tumor_sample.COAD.cna.tsv`` -``~/pcgr-0.5.0/examples ~/pcgr-0.5.0/examples/pcgr_configuration.toml tumor_sample.COAD`` +``python pcgr.py --input_vcf ~/pcgr-0.5.1/examples/tumor_sample.COAD.vcf.gz`` +``--input_cna ~/pcgr-0.5.1/examples/tumor_sample.COAD.cna.tsv`` +``~/pcgr-0.5.1/examples ~/pcgr-0.5.1/examples/pcgr_configuration.toml tumor_sample.COAD`` This command will run the Docker-based PCGR workflow and produce the following output files in the *examples* folder: diff --git a/docs/_build/html/_sources/output.rst.txt b/docs/_build/html/_sources/output.rst.txt index 19ac6e74..92badf98 100644 --- a/docs/_build/html/_sources/output.rst.txt +++ b/docs/_build/html/_sources/output.rst.txt @@ -482,29 +482,29 @@ processing with the PCGR annotation pipeline: mutations in cancer `__ database, as provided by VEP -- *COSMIC\_CODON\_FRAC\_GW - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_CODON\_FRAC\_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_CODON\_COUNT\_GW - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_CODON\_COUNT\_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_SITE\_HISTOLOGY - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_SITE\_HISTOLOGY - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_CANCER\_TYPE\_GW - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_CANCER\_TYPE\_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_CANCER\_TYPE\_ALL - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_CANCER\_TYPE\_ALL - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_SITE\_HISTOLOGY - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_SITE\_HISTOLOGY - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_CANCER\_TYPE\_GW - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_CANCER\_TYPE\_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_SAMPLE\_SOURCE - Deprecated in 0.5.0 due to COSMIC licensing +- *COSMIC\_SAMPLE\_SOURCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_DRUG\_RESISTANCE - Deprecated in 0.5.0 due to COSMIC +- *COSMIC\_DRUG\_RESISTANCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_FATHMM\_PRED - Deprecated in 0.5.0 due to COSMIC licensing +- *COSMIC\_FATHMM\_PRED - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_VARTYPE - Deprecated in 0.5.0 due to COSMIC licensing +- *COSMIC\_VARTYPE - Deprecated in 0.5.1 due to COSMIC licensing restrictions* -- *COSMIC\_CONSEQUENCE - Deprecated in 0.5.0 due to COSMIC licensing +- *COSMIC\_CONSEQUENCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions* .. raw:: html diff --git a/docs/_build/html/getting_started.html b/docs/_build/html/getting_started.html index 34778815..18616cfb 100644 --- a/docs/_build/html/getting_started.html +++ b/docs/_build/html/getting_started.html @@ -202,7 +202,7 @@

Python

  • Download and unpack the latest software release -(0.5.0)

    +(0.5.1)

  • Download and unpack the data bundle (approx. 16Gb) in the PCGR directory

    @@ -210,7 +210,7 @@

    Download PCGRthe accompanying data bundle from Google Drive to ~/pcgr-X.X (replace X.X with the -version number, e.g. ~/pcgr-0.5.0)

  • +version number, e.g. ~/pcgr-0.5.1)
  • Decompress and untar the bundle, e.g. through the following Unix command: gzip -dc pcgr.databundle.GRCh37.YYYYMMDD.tgz | tar xvf -
  • @@ -219,10 +219,10 @@

    Download PCGRPull the PCGR Docker image - -0.5.0 from DockerHub +0.5.1 from DockerHub (approx 4.2Gb) :

      -
    • docker pull sigven/pcgr:0.5.0 (PCGR annotation engine)
    • +
    • docker pull sigven/pcgr:0.5.1 (PCGR annotation engine)

@@ -241,7 +241,7 @@

Run test - generation of clinical report for a cancer genomepositional arguments: pcgr_dir PCGR base directory with accompanying data directory, - e.g. ~/pcgr-0.5.0 + e.g. ~/pcgr-0.5.1 output_dir Output directory configuration_file PCGR configuration file (TOML format) sample_id Tumor sample/cancer genome identifier - prefix for @@ -282,9 +282,9 @@

Run test - generation of clinical report for a cancer genomepython pcgr.py --input_vcf ~/pcgr-0.5.0/examples/tumor_sample.COAD.vcf.gz ---input_cna ~/pcgr-0.5.0/examples/tumor_sample.COAD.cna.tsv -~/pcgr-0.5.0/examples ~/pcgr-0.5.0/examples/pcgr_configuration.toml tumor_sample.COAD

+

python pcgr.py --input_vcf ~/pcgr-0.5.1/examples/tumor_sample.COAD.vcf.gz +--input_cna ~/pcgr-0.5.1/examples/tumor_sample.COAD.cna.tsv +~/pcgr-0.5.1/examples ~/pcgr-0.5.1/examples/pcgr_configuration.toml tumor_sample.COAD

This command will run the Docker-based PCGR workflow and produce the following output files in the examples folder:

    diff --git a/docs/_build/html/output.html b/docs/_build/html/output.html index f67d035f..72caea86 100644 --- a/docs/_build/html/output.html +++ b/docs/_build/html/output.html @@ -667,29 +667,29 @@

    Variant frequencies/annotations in germline/somatic databases database, as provided by VEP -
  1. COSMIC_CODON_FRAC_GW - Deprecated in 0.5.0 due to COSMIC +
  2. COSMIC_CODON_FRAC_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  3. -
  4. COSMIC_CODON_COUNT_GW - Deprecated in 0.5.0 due to COSMIC +
  5. COSMIC_CODON_COUNT_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  6. -
  7. COSMIC_SITE_HISTOLOGY - Deprecated in 0.5.0 due to COSMIC +
  8. COSMIC_SITE_HISTOLOGY - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  9. -
  10. COSMIC_CANCER_TYPE_GW - Deprecated in 0.5.0 due to COSMIC +
  11. COSMIC_CANCER_TYPE_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  12. -
  13. COSMIC_CANCER_TYPE_ALL - Deprecated in 0.5.0 due to COSMIC +
  14. COSMIC_CANCER_TYPE_ALL - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  15. -
  16. COSMIC_SITE_HISTOLOGY - Deprecated in 0.5.0 due to COSMIC +
  17. COSMIC_SITE_HISTOLOGY - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  18. -
  19. COSMIC_CANCER_TYPE_GW - Deprecated in 0.5.0 due to COSMIC +
  20. COSMIC_CANCER_TYPE_GW - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  21. -
  22. COSMIC_SAMPLE_SOURCE - Deprecated in 0.5.0 due to COSMIC licensing +
  23. COSMIC_SAMPLE_SOURCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  24. -
  25. COSMIC_DRUG_RESISTANCE - Deprecated in 0.5.0 due to COSMIC +
  26. COSMIC_DRUG_RESISTANCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  27. -
  28. COSMIC_FATHMM_PRED - Deprecated in 0.5.0 due to COSMIC licensing +
  29. COSMIC_FATHMM_PRED - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  30. -
  31. COSMIC_VARTYPE - Deprecated in 0.5.0 due to COSMIC licensing +
  32. COSMIC_VARTYPE - Deprecated in 0.5.1 due to COSMIC licensing restrictions
  33. -
  34. COSMIC_CONSEQUENCE - Deprecated in 0.5.0 due to COSMIC licensing +
  35. COSMIC_CONSEQUENCE - Deprecated in 0.5.1 due to COSMIC licensing restrictions