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enh: instruction for COSMIC
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danilotat committed Nov 25, 2024
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2 changes: 1 addition & 1 deletion docs/hpc.md
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Expand Up @@ -12,7 +12,7 @@ Then inside the folder `worflow/profile` you'll find for each of the supported m

!!! tip

The following notes reported examples using the legacy config file. However, the relevant edits are the same!
The following notes reported examples using the legacy config file. However, the relevant edits are the same!

## Singularity args

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5 changes: 5 additions & 0 deletions docs/resources.md
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Expand Up @@ -23,6 +23,11 @@ This script will download different resources:
- REDI portal
- VEP cache (v105)

ENEO uses also COSMIC, to further annotate known somatic variants with the relevant COSMIC id. According to the nature of your entity (Commercial or Non-Commercial), please download the cosmic VCF file following the guidelines on the [website](https://cancer.sanger.ac.uk/cosmic/download/cosmic). After downloading, add the PATH of the downloaded VCF into the configuration file (located under `config/config_main.yaml`)

!!! note
If you're not interested in using COSMIC and are not interested in adding this notation, you had to edit the file in `workflow/utils/vcfanno.toml`. In details, you had to remove the lines 31-35 and the lines 43-51

## What if I already got some of them?

The configuration script works by controlling the existence of the files whose path is written inside the main configuration file `conf_main.yaml`, located in the `config` folder. If any of those files are already in your machine, just edit the configuration file adding the right *absolute* path. The script will check for its presence without re-downloading it.
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