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Merge pull request #127 from umccr/JMarzec-patch-1
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Update link to PCGR tier documentation
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skanwal authored Jan 15, 2024
2 parents 1bf12f2 + afc26e6 commit 24b77ea
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4 changes: 2 additions & 2 deletions workflow.md
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Expand Up @@ -153,8 +153,8 @@ For patients with available [WGS](./README.md#wgs) data processed using *[umccri
### Somatic SNVs and small indels

* Check if **[PCGR](https://github.com/sigven/pcgr)** output file (see [example](./data/test_data/umccrised/test_sample_WGS/pcgr/test_sample_WGS-somatic.pcgr.snvs_indels.tiers.tsv)) is available
* **Extract** expression level **information** and genome-based findings for genes with detected genomic variants (use ```--pcgr_tier``` [argument](README.md/#arguments) to define [tier](https://pcgr.readthedocs.io/en/latest/tier_systems.html#tier-model-2-pcgr-acmg) threshold value)
* **Ordered genes** by increasing variants **[tier](https://pcgr.readthedocs.io/en/latest/tier_systems.html#tier-model-2-pcgr-acmg)** and then by decreasing absolute values representing difference between expression levels in the patient sample and the corresponding reference cohort
* **Extract** expression level **information** and genome-based findings for genes with detected genomic variants (use ```--pcgr_tier``` [argument](README.md/#arguments) to define [tier]([https://pcgr.readthedocs.io/en/latest/tier_systems.html#tier-model-2-pcgr-acmg](https://sigven.github.io/pcgr/articles/variant_classification.html) threshold value)
* **Ordered genes** by increasing variants **[tier]([https://pcgr.readthedocs.io/en/latest/tier_systems.html#tier-model-2-pcgr-acmg](https://sigven.github.io/pcgr/articles/variant_classification.html)** and then by decreasing absolute values representing difference between expression levels in the patient sample and the corresponding reference cohort

### Structural variants

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