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Annotation with or without cache #719

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merged 16 commits into from
Feb 11, 2019
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maxulysse
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@maxulysse maxulysse commented Jan 29, 2019

  • add --annotation_cache parameter to use the annotation cache, which need to be used with:
    • ---snpEff_cache to specify snpEff cache
    • --vep_cache to specify VEP cache
  • VEP cache version is now specified within genome config files, and can be modified via command line if needed
  • Documentation has been made about annotation
  • snpEff and VEP containers are now made with conda
  • removed snpEff base container
  • updated snpEff and VEP
  • snpEff and VEP are now also in the base container
  • update docs

PR checklist

  • PR is made against dev branch
  • This comment contains a description of changes (with reason)
  • If you've fixed a bug or added code that should be tested, add tests!
  • Ensure the test suite passes (./scripts/test.sh -p docker -t ALL).
  • Documentation in docs is updated
  • CHANGELOG.md is updated
  • README.md is updated

EDIT: Forgot the details...

docs/ANNOTATION.md Outdated Show resolved Hide resolved

## Downloading cache

An helper script has been designed to help downloading snpEff and VEP cache.
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You could add here as well that this is only necessary if one is not running on uppmax and do not wish to use the specific containers.

@@ -12,6 +13,8 @@ Subsets of all containers can be downloaded:
- For annotation for GRCh38, you will need:
- [snpeffgrch38](#snpeffgrch38-)
- [vepgrch38](#vepgrch38-)
- For annotation with cache use:
- [sarek](#sarek-)
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But in that case, I could probably say, you should already have this one...

@@ -112,6 +111,23 @@ Possible values are:
Choose vcf to annotate.
Different vcfs to be separated by commas.

### --annotate_cache

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Could you clarify the edge cases, for example: using: --annotate_cache but not either --snpEff_cache or --vep_cache; using --snpEff_cache without --annotate_cache?

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won't work.
You need to use --annotate_cache with --snpEff_cache or/and --vep_cache
If you use only --annotate_cache it's not using cache
If you use only --snpEff_cache or/and --vep_cache it's not using cache either

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Yes, can you have that in the docs? It will not crash though, it will just not do what one thinks it does. Right?

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OK, I will specify all that then

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Looks good to me! Slightly to big for me to be able to grasp all the changes though. But I can't spot any errors at least.

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Currently seems to be working well on munin.
I just now need to clean up the definition of params not to impact other profiles and I'll be OK to merge it too.

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Annotation worked well on munin, with and without the annotation cache.
So this is officially working.
Will work on making the config files and the parameters look pretty now.

@maxulysse
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also closes #554

@alneberg alneberg merged commit 1ecccac into SciLifeLab:dev Feb 11, 2019
@maxulysse maxulysse deleted the Annotation branch February 11, 2019 11:57
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