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Merge pull request #128 from umccr/JMarzec-patch-2
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Update link to PURPLE
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skanwal authored Jan 15, 2024
2 parents 24b77ea + 27e9fea commit 895173d
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Expand Up @@ -166,7 +166,7 @@ For patients with available [WGS](./README.md#wgs) data processed using *[umccri

### Somatic CNVs

* Check if **[PURPLE](https://github.com/hartwigmedical/hmftools/tree/master/purity-ploidy-estimator)** output file (see [example](./data/test_data/umccrised/test_sample_WGS/purple/test_sample_WGS.purple.gene.cnv)) is available
* Check if **[PURPLE](https://github.com/hartwigmedical/hmftools/blob/master/purple/README.md)** output file (see [example](./data/test_data/umccrised/test_sample_WGS/purple/test_sample_WGS.purple.gene.cnv)) is available
* **Extract** expression level **information** and genome-based findings for genes located within detected CNVs (use ```--cn_loss ``` and ```--cn_gain ``` [arguments](README.md/#arguments) to define CN threshold values to classify genes within lost and gained regions)
* **Ordered genes** by increasing (for genes within lost regions) or decreasing (for genes within gained regions) **[CN](https://github.com/umccr/umccrise/blob/master/workflow.md#somatic-cnv)** and then by decreasing absolute values representing difference between expression levels in the patient sample and the corresponding reference cohort

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