diskin-lab-chop / AutoGVP

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Rjcorb/173 add descriptive clinvar revstat #174

Closed rjcorb closed 12 months ago

rjcorb commented 12 months ago

Purpose/implementation Section

What feature is being added or bug is being addressed?

Closes #173. This PR creates a descriptive clinvar review status column that indicates how a call was made in cases where variants have conflicting interpretations, and includes both this and original review status columns in final output.

What was your approach?

What GitHub issue does your pull request address?

173

Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.

Which areas should receive a particularly close look?

Please first run select-clinVar-submissions.R and confirm that variants with conflicting interpretations have additional descriptor:

`select-clinVar-submissions.R --variant_summary input/variant_summary.txt.gz --submission_summary submission_summary.txt.gz

Then run AutoGVP to confirm that column clinvar_review_status_autogvp is included in final output:

bash run_autogvp.sh --workflow="custom" \
--vcf=input/test_VEP.vcf \
--clinvar=input/clinvar.vcf.gz \
--intervar=input/test_VEP.hg38_multianno.txt.intervar \
--multianno=input/test_VEP.vcf.hg38_multianno.txt \
--autopvs1=input/test_autopvs1.txt \
--outdir=../results \
--out="test_custom"

Is there anything that you want to discuss further?

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