Skip to content
GitLab
Explore
Sign in
Primary navigation
Search or go to…
Project
P
Pgs Harmonizer
Manage
Activity
Members
Labels
Plan
Issues
0
Issue boards
Milestones
Iterations
Wiki
Requirements
Code
Merge requests
0
Repository
Branches
Commits
Tags
Repository graph
Compare revisions
Snippets
Locked files
Build
Pipelines
Jobs
Pipeline schedules
Test cases
Artifacts
Deploy
Releases
Package Registry
Container Registry
Operate
Environments
Terraform modules
Monitor
Incidents
Service Desk
Analyze
Value stream analytics
Contributor analytics
CI/CD analytics
Repository analytics
Code review analytics
Issue analytics
Insights
Help
Help
Support
GitLab documentation
Compare GitLab plans
Community forum
Contribute to GitLab
Provide feedback
Terms and privacy
Keyboard shortcuts
?
Snippets
Groups
Projects
Show more breadcrumbs
pgscatalog
Pgs Harmonizer
Commits
302530cf
Commit
302530cf
authored
3 years ago
by
smlmbrt
Browse files
Options
Downloads
Patches
Plain Diff
Small readme change
parent
26bcf728
No related branches found
No related tags found
No related merge requests found
Changes
1
Hide whitespace changes
Inline
Side-by-side
Showing
1 changed file
README.md
+3
-17
3 additions, 17 deletions
README.md
with
3 additions
and
17 deletions
README.md
+
3
−
17
View file @
302530cf
...
...
@@ -113,23 +113,9 @@ To test that the pipeline can run try these commands on the test data in the pro
python Harmonize.py HmPOS PGS000065 GRCh38 -loc_files ./test_data/ --gzip
python Harmonize.py HmVCF PGS000065 GRCh38 --gzip
## pseudocode (adapted from GWAS Catalog [README](https://github.com/EBISPOT/sum-stats-formatter/blob/master/harmonisation/README.md))
<pre>
READ/PARSE PGS Scoring File and headers
FOR each variant
IF RSID maps to genomic location in Ensembl THEN
update locations based on Ensembl mapping
IF RSID != original RSID THEN
update rsID (provide original rsID in hm_info)
ELIF Able to liftover locations to current build THEN
liftover locations to current build
ELSE
*flag*
variant and provide original mappings in hm_info column as dictionary
ENDIF
CHECK variant alleles against ENSEMBL or cohort-specific VCF and flag if the alleles are consistent (e.g. present, flipped, palindromic, etc)
ENDFOR
</pre>
## Description of Harmonization Codes (`hm_code`)
Once the HmVCF function is run each variant is assigned a value in the harmonization code (
`hm_code`
) column that
reflects how the variant appears in the target variant data.
+----+--------------------------------------------------------------+
|Code|Description of harmonisation process |
...
...
This diff is collapsed.
Click to expand it.
Preview
0%
Try again
or
attach a new file
.
Cancel
You are about to add
0
people
to the discussion. Proceed with caution.
Finish editing this message first!
Save comment
Cancel
Please
register
or
sign in
to comment