Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Fix #4906 - warn on potentially conflicting ACMG terms. #4932

Merged
merged 8 commits into from
Oct 11, 2024

Conversation

dnil
Copy link
Collaborator

@dnil dnil commented Oct 10, 2024

This PR adds a functionality or fixes a bug.

Thanks to @4WGH for highlighting this and for a good discussion on potential pairs.

Screenshot 2024-10-10 at 16 44 39

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 draft October 10, 2024 14:51
Copy link

codecov bot commented Oct 10, 2024

Codecov Report

All modified and coverable lines are covered by tests ✅

Project coverage is 84.81%. Comparing base (84d7905) to head (7445e19).
Report is 1 commits behind head on main.

Additional details and impacted files
@@            Coverage Diff             @@
##             main    #4932      +/-   ##
==========================================
+ Coverage   84.80%   84.81%   +0.01%     
==========================================
  Files         320      320              
  Lines       19335    19344       +9     
==========================================
+ Hits        16397    16407      +10     
+ Misses       2938     2937       -1     

☔ View full report in Codecov by Sentry.
📢 Have feedback on the report? Share it here.

@dnil dnil marked this pull request as ready for review October 10, 2024 15:13
@@ -297,7 +297,7 @@
(
"BP7",
{
"short": "(not in use)",
"short": "Synonymous, no splice impact",
Copy link
Collaborator Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

I’m going to guess that was from before we had splice prediction in the pipe.

Copy link
Member

@northwestwitch northwestwitch left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Really nice new feature. Very visible and useful! 🥇
I have a couple of minor suggestions in the code.

scout/constants/acmg.py Outdated Show resolved Hide resolved
scout/utils/acmg.py Outdated Show resolved Hide resolved
dnil and others added 3 commits October 11, 2024 14:40
Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>
Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>
Copy link

sonarcloud bot commented Oct 11, 2024

@dnil dnil merged commit 040862a into main Oct 11, 2024
25 checks passed
@dnil dnil deleted the avoid_acmg_nonorthogonal_criteria branch October 11, 2024 14:45
dnil added a commit that referenced this pull request Oct 11, 2024
* Fix #4906 - warn on potentially conflicting ACMG terms.

* add a tuple, sort, and simplify slightly

* add test

* typo

* Update scout/constants/acmg.py

Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>

* Update scout/utils/acmg.py

Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>

---------

Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

ACMG criteria that cannot be used together
2 participants