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README.md

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@@ -7,6 +7,8 @@ The Personal Cancer Genome Reporter (PCGR) is a stand-alone software package for
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![PCGR overview](PCGR_workflow.png)
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### News
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* _November 29th 2017_: **0.5.3 release**
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* Fixed bug with propagation of default options
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* _November 23rd 2017_: **0.5.2 release**
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* _November 15th 2017_: **0.5.1 pre-release**
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* Bug fixing (VCF validation)
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### Example reports
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* [Report for a breast tumor sample (TCGA)](http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.2.pcgr.html)
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* [Report for a colon adenocarcinoma sample (TCGA)](http://folk.uio.no/sigven/tumor_sample.COAD.0.5.2.pcgr.html)
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* [Report for a breast tumor sample (TCGA)](http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.3.pcgr.html)
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* [Report for a colon adenocarcinoma sample (TCGA)](http://folk.uio.no/sigven/tumor_sample.COAD.0.5.3.pcgr.html)
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### PCGR documentation
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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)
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### Annotation resources included in PCGR (v0.5.2)
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### Annotation resources included in PCGR (v0.5.3)
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* [VEP v90](http://www.ensembl.org/info/docs/tools/vep/index.html) - Variant Effect Predictor release 90 (GENCODE v27 as the gene reference dataset)
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* [dBNSFP v3.4](https://sites.google.com/site/jpopgen/dbNSFP) - Database of non-synonymous functional predictions (March 2017)
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3. Adjust the computing resources dedicated to the Docker, i.e.:
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- Memory: minimum 5GB
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- CPUs: minimum 4
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- [How to - Mac OS X](https://docs.docker.com/docker-for-mac/#advanced)
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- [How to - Mac OS X](https://docs.docker.com/docker-for-mac/#advanced)
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#### STEP 2: Download PCGR
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1. Download and unpack the [latest software release (0.5.2)](https://github.com/sigven/pcgr/releases/tag/v0.5.2)
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1. Download and unpack the [latest software release (0.5.3)](https://github.com/sigven/pcgr/releases/tag/v0.5.3)
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2. Download and unpack the data bundle (approx. 16Gb) in the PCGR directory
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* Download [the accompanying data bundle](https://drive.google.com/file/d/1NSeMWpLVMBcCEDYpOLsuWSnKfZEaamip/) from Google Drive to `~/pcgr-X.X` (replace _X.X_ with the version number, e.g `~/pcgr-0.5.2`)
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* Download [the accompanying data bundle](https://drive.google.com/file/d/1NSeMWpLVMBcCEDYpOLsuWSnKfZEaamip/) from Google Drive to `~/pcgr-X.X` (replace _X.X_ with the version number, e.g `~/pcgr-0.5.3`)
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* Unpack the data bundle, e.g. through the following Unix command: `gzip -dc pcgr.databundle.GRCh37.YYYYMMDD.tgz | tar xvf -`
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A _data/_ folder within the _pcgr-X.X_ software folder should now have been produced
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3. Pull the [PCGR Docker image (0.5.2)](https://hub.docker.com/r/sigven/pcgr/) from DockerHub (approx 4.2Gb):
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* `docker pull sigven/pcgr:0.5.2` (PCGR annotation engine)
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3. Pull the [PCGR Docker image (0.5.3)](https://hub.docker.com/r/sigven/pcgr/) from DockerHub (approx 4.2Gb):
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* `docker pull sigven/pcgr:0.5.3` (PCGR annotation engine)
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#### STEP 3: Input preprocessing
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positional arguments:
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pcgr_dir PCGR base directory with accompanying data directory,
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e.g. ~/pcgr-0.5.2
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e.g. ~/pcgr-0.5.3
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output_dir Output directory
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configuration_file PCGR configuration file (TOML format)
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sample_id Tumor sample/cancer genome identifier - prefix for
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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:
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`python pcgr.py --input_vcf ~/pcgr-0.5.2/examples/tumor_sample.COAD.vcf.gz`
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`--input_cna ~/pcgr-0.5.2/examples/tumor_sample.COAD.cna.tsv`
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` ~/pcgr-0.5.2 ~/pcgr-0.5.2/examples ~/pcgr-0.5.2/examples/pcgr_configuration.toml tumor_sample.COAD`
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`python pcgr.py --input_vcf ~/pcgr-0.5.3/examples/tumor_sample.COAD.vcf.gz`
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`--input_cna ~/pcgr-0.5.3/examples/tumor_sample.COAD.cna.tsv`
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` ~/pcgr-0.5.3 ~/pcgr-0.5.3/examples ~/pcgr-0.5.3/examples/pcgr_configuration_examples.toml tumor_sample.COAD`
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This command will run the Docker-based PCGR workflow and produce the following output files in the _examples_ folder:
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docs/_build/doctrees/about.doctree

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docs/_build/html/.buildinfo

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# Sphinx build info version 1
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# This file hashes the configuration used when building these files. When it is not found, a full rebuild will be done.
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config: a37f4512adb7d594a1b2deb3b303056d
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config: 4a2fe4a2c5cd8e7cce3c94775d1a8b54
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tags: 645f666f9bcd5a90fca523b33c5a78b7

docs/_build/html/_sources/about.rst.txt

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~~~~~~~~~~~~~~~
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- `Report for a breast tumor sample
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.2.pcgr.html>`__
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.3.pcgr.html>`__
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- `Report for a colon adenocarcinoma sample
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.COAD.0.5.2.pcgr.html>`__
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.COAD.0.5.3.pcgr.html>`__
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Why use PCGR?
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~~~~~~~~~~~~~

docs/_build/html/_sources/getting_started.rst.txt

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^^^^^^^^^^^^^
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- Download and unpack the `latest software release
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(0.5.2) <https://github.com/sigven/pcgr/releases/latest>`__
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(0.5.3) <https://github.com/sigven/pcgr/releases/latest>`__
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- Download and unpack the data bundle (approx. 16Gb) in the PCGR
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directory
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- Download `the accompanying data
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bundle <https://drive.google.com/file/d/1NSeMWpLVMBcCEDYpOLsuWSnKfZEaamip/>`__
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from Google Drive to ``~/pcgr-X.X`` (replace *X.X* with the
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version number, e.g. ``~/pcgr-0.5.2``)
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version number, e.g. ``~/pcgr-0.5.3``)
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- Decompress and untar the bundle, e.g. through the following Unix
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``gzip -dc pcgr.databundle.GRCh37.YYYYMMDD.tgz | tar xvf -``
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- Pull the `PCGR Docker image -
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0.5.2 <https://hub.docker.com/r/sigven/pcgr/>`__ from DockerHub
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0.5.3 <https://hub.docker.com/r/sigven/pcgr/>`__ from DockerHub
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(approx 4.2Gb) :
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- ``docker pull sigven/pcgr:0.5.2`` (PCGR annotation engine)
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- ``docker pull sigven/pcgr:0.5.3`` (PCGR annotation engine)
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Run test - generation of clinical report for a cancer genome
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~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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positional arguments:
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pcgr_dir PCGR base directory with accompanying data directory,
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e.g. ~/pcgr-0.5.2
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e.g. ~/pcgr-0.5.3
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output_dir Output directory
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configuration_file PCGR configuration file (TOML format)
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sample_id Tumor sample/cancer genome identifier - prefix for
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report for a colorectal tumor case can be generated by running the
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following command in your terminal window:
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``python pcgr.py --input_vcf ~/pcgr-0.5.2/examples/tumor_sample.COAD.vcf.gz``
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``--input_cna ~/pcgr-0.5.2/examples/tumor_sample.COAD.cna.tsv``
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``~/pcgr-0.5.2 ~/pcgr-0.5.2/examples``
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\`\ ``~/pcgr-0.5.2/examples/pcgr_configuration.toml tumor_sample.COAD``
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``python pcgr.py --input_vcf ~/pcgr-0.5.3/examples/tumor_sample.COAD.vcf.gz``
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``--input_cna ~/pcgr-0.5.3/examples/tumor_sample.COAD.cna.tsv``
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``~/pcgr-0.5.3 ~/pcgr-0.5.3/examples``
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\`\ ``~/pcgr-0.5.3/examples/pcgr_configuration_examples.toml tumor_sample.COAD``
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This command will run the Docker-based PCGR workflow and produce the
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following output files in the *examples* folder:

docs/_build/html/_sources/output.rst.txt

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- Supporting scientific literature (key report elements)
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- `View an example report for a breast tumor sample
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.2.pcgr.html>`__
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.3.pcgr.html>`__
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- `View an example report for a colon adenocarcinoma sample
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.COAD.0.5.2.pcgr.html>`__
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(TCGA) <http://folk.uio.no/sigven/tumor_sample.COAD.0.5.3.pcgr.html>`__
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The HTML reports have been tested using the following browsers:
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::
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1. chrom - chromosome
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1. chrom - chromosome
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2. segment_start - start of copy number segment
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4. segment_length_Mb - length of segment in Mb

docs/_build/html/about.html

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<meta name="viewport" content="width=device-width, initial-scale=1.0">
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<title>About &mdash; Personal Cancer Genome Reporter 0.5.2 documentation</title>
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<title>About &mdash; Personal Cancer Genome Reporter 0.5.3 documentation</title>
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<link rel="index" title="Index"
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href="genindex.html"/>
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<link rel="search" title="Search" href="search.html"/>
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<link rel="top" title="Personal Cancer Genome Reporter 0.5.2 documentation" href="index.html"/>
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<link rel="top" title="Personal Cancer Genome Reporter 0.5.3 documentation" href="index.html"/>
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<link rel="next" title="Getting started" href="getting_started.html"/>
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<link rel="prev" title="Welcome to Personal Cancer Genome Reporter’s documentation!" href="index.html"/>
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<div class="version">
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0.5.2
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0.5.3
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</div>
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<div class="section" id="example-reports">
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<h2>Example reports<a class="headerlink" href="#example-reports" title="Permalink to this headline"></a></h2>
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<ul class="simple">
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<li><a class="reference external" href="http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.2.pcgr.html">Report for a breast tumor sample
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<li><a class="reference external" href="http://folk.uio.no/sigven/tumor_sample.BRCA.0.5.3.pcgr.html">Report for a breast tumor sample
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(TCGA)</a></li>
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<li><a class="reference external" href="http://folk.uio.no/sigven/tumor_sample.COAD.0.5.2.pcgr.html">Report for a colon adenocarcinoma sample
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<li><a class="reference external" href="http://folk.uio.no/sigven/tumor_sample.COAD.0.5.3.pcgr.html">Report for a colon adenocarcinoma sample
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<script type="text/javascript">
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var DOCUMENTATION_OPTIONS = {
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VERSION:'0.5.3',
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COLLAPSE_INDEX:false,
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