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More LRS SV callers #4886

Merged
merged 11 commits into from
Oct 7, 2024
Merged

More LRS SV callers #4886

merged 11 commits into from
Oct 7, 2024

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dnil
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@dnil dnil commented Sep 23, 2024

This PR adds a functionality or fixes a bug.

Add new potential Nallo additions Severus (https://github.com/KolmogorovLab/Severus) and HiFiCNV (https://www.pacb.com/blog/hificnv/) plus a missing tag for TRGT (https://github.com/PacificBiosciences/trgt).

Testing on cg-vm1 server (Clinical Genomics Stockholm)

Prepare for testing

  1. Make sure the PR is pushed and available on Docker Hub
  2. Fist book your testing time using the Pax software available at https://pax.scilifelab.se/. The resource you are going to call dibs on is scout-stage and the server is cg-vm1.
  3. ssh <USER.NAME>@cg-vm1.scilifelab.se
  4. sudo -iu hiseq.clinical
  5. ssh localhost
  6. (optional) Find out which scout branch is currently deployed on cg-vm1: podman ps
  7. Stop the service with current deployed branch: systemctl --user stop scout.target
  8. Start the scout service with the branch to test: systemctl --user start scout@<this_branch>
  9. Make sure the branch is deployed: systemctl --user status scout.target
  10. After testing is done, repeat procedure at https://pax.scilifelab.se/, which will release the allocated resource (scout-stage) to be used for testing by other users.
Testing on hasta server (Clinical Genomics Stockholm)

Prepare for testing

  1. ssh <USER.NAME>@hasta.scilifelab.se
  2. Book your testing time using the Pax software. us; paxa -u <user> -s hasta -r scout-stage. You can also use the WSGI Pax app available at https://pax.scilifelab.se/.
  3. (optional) Find out which scout branch is currently deployed on cg-vm1: conda activate S_scout; pip freeze | grep scout-browser
  4. Deploy the branch to test: bash /home/proj/production/servers/resources/hasta.scilifelab.se/update-tool-stage.sh -e S_scout -t scout -b <this_branch>
  5. Make sure the branch is deployed: us; scout --version
  6. After testing is done, repeat the paxa procedure, which will release the allocated resource (scout-stage) to be used for testing by other users.

How to test:

  1. how to test it, possibly with real cases/data

Expected outcome:
The functionality should be working
Take a screenshot and attach or copy/paste the output.

Review:

  • code approved by
  • tests executed by

@dnil dnil marked this pull request as ready for review September 23, 2024 12:42
@dnil dnil added the Easy label Sep 23, 2024
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codecov bot commented Sep 23, 2024

Codecov Report

All modified and coverable lines are covered by tests ✅

Project coverage is 84.78%. Comparing base (c37c486) to head (f57d8d7).
Report is 1 commits behind head on main.

Additional details and impacted files
@@           Coverage Diff           @@
##             main    #4886   +/-   ##
=======================================
  Coverage   84.77%   84.78%           
=======================================
  Files         319      319           
  Lines       19322    19326    +4     
=======================================
+ Hits        16381    16385    +4     
  Misses       2941     2941           

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Looks good to me 👍🏻

Consider starting using constants in callers lists

scout/constants/__init__.py Outdated Show resolved Hide resolved
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Do we want to include this one in the the release?

@dnil
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dnil commented Sep 26, 2024

It's not a rush. I'll try to make a test case based on the examples from @fellen31. I'm sure the tags as such work, but it would be nice to see that the caller output actually load and show something useful in Scout when adding them.

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sonarcloud bot commented Oct 7, 2024

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fellen31 commented Oct 7, 2024

It's not a rush. I'll try to make a test case based on the examples from @fellen31. I'm sure the tags as such work, but it would be nice to see that the caller output actually load and show something useful in Scout when adding them.

Taking a bit longer to get a real test case, but variants from both (without annotation) seem to be able to be uploaded to Scout.

@dnil
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dnil commented Oct 7, 2024

Ok, that is good enough for me! Annotation is reasonably proven. We can get back to nitty gritty details on specific keys for these callers later as needed.

@dnil dnil merged commit 45958a2 into main Oct 7, 2024
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dreamweaver-cell pushed a commit to gmc-norr/scout that referenced this pull request Oct 9, 2024
* Fix Clinical-Genomics#4883 - added hificnv, severus and trgt caller tags

* hificnv it is

* fusion callers could also be alphabetical

* as well as snv callers really

* Fix according to review - use subconstants

---------

Co-authored-by: Chiara Rasi <[email protected]>
dreamweaver-cell pushed a commit to gmc-norr/scout that referenced this pull request Oct 9, 2024
Fix code style issues with Black

Fix 4913 - Add a small script to check panel rank (Clinical-Genomics#4914)

* Fix 4913 - Add a small script to check panel rank

* update output

* URI

* uri config option name

* add a best rank

* fix best rank

* Panels

* add owner

* Save in mem instead of leaving cursors open long

* header order, review suggestions

More LRS SV callers (Clinical-Genomics#4886)

* Fix Clinical-Genomics#4883 - added hificnv, severus and trgt caller tags

* hificnv it is

* fusion callers could also be alphabetical

* as well as snv callers really

* Fix according to review - use subconstants

---------

Co-authored-by: Chiara Rasi <[email protected]>

Do not show ORPHA inheritance on variant page (Clinical-Genomics#4916)

* Do not display inheritance models associated to ORPHA terms on variant page

* Fix tooltip as well

---------

Co-authored-by: Chiara Rasi <[email protected]>

Chanjo2 MANE coverage overview (Clinical-Genomics#4915)

* Add mane overview also on panel page

* Fix changelog after merge

* Fix pseudolinks

* Fix pseudolinks also on panel page

---------

Co-authored-by: Chiara Rasi <[email protected]>
Co-authored-by: Daniel Nilsson <[email protected]>
@northwestwitch northwestwitch deleted the more_lrs_sv_callers branch October 10, 2024 14:32
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3 participants