diskin-lab-chop / AutoGVP

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Bug: Clinvar final call does not match clinvar_clinsig #125

Closed rjcorb closed 1 year ago

rjcorb commented 1 year ago

Provide the command used or report the bug here

There are currently some cases in which the final_call column of ClinVar calls does not match the call in clinvar_clinsig:

# A tibble: 14 × 5
   autogvp_call autogvp_call_reason clinvar_clinsig clinvar_stars rs_id      
   <chr>        <chr>               <chr>           <chr>         <chr>      
 1 Benign       ClinVar             Likely_benign   2             rs41307788 
 2 Benign       ClinVar             Likely_benign   2             rs536647518
 3 Benign       ClinVar             Likely_benign   2             rs76707931 
 4 Benign       ClinVar             Likely_benign   2             rs10774671 
 5 Benign       ClinVar             Likely_benign   1             rs142978237
 6 Benign       ClinVar             Likely_benign   2             rs77380520 
 7 Benign       ClinVar             Likely_benign   2             rs776920005
 8 Benign       ClinVar             Likely_benign   2             rs148823991
 9 Benign       ClinVar             Likely_benign   2             rs114804083
10 Benign       ClinVar             Likely_benign   2             rs116344406
11 Benign       ClinVar             Likely_benign   2             rs201158177
12 Benign       ClinVar             Likely_benign   2             rs184332718
13 Benign       ClinVar             Likely_benign   2             rs41304179 

This is caused by values in the clinvar_clinsig column being pulled from the clinvar submission file, whereas the final_call values are pulled directly from the vcf file clinvar data. Since the submission file calls are only relevant in conflicting cases that need resolution, we can modify so that clinvar_clinsig == final_call for all clinVar cases EXCEPT those that were resolved with the submission file, which will keep the clinvar_clinsig value.

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