diskin-lab-chop / AutoGVP

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create var id cols to match multianno & intervar variants #141

Closed rjcorb closed 1 year ago

rjcorb commented 1 year ago

Purpose/implementation Section

What feature is being added or bug is being addressed?

Closes #140. This PR modifies loading and merging of multianno and intervar files, which is now performed by matching var_id values rather than sorting and binding columns.

What was your approach?

see above

What GitHub issue does your pull request address?

140

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

Which areas should receive a particularly close look?

Please test run on custom and pbta test scripts and ensure output looks as expected.

bash run_autogvp.sh --workflow="cavatica" \
--vcf=input/test_pbta.single.vqsr.filtered.vep_105.vcf \
--filter_criteria='INFO/AF>=0.2 INFO/DP>=15 (gnomad_3_1_1_AF_non_cancer<0.01|gnomad_3_1_1_AF_non_cancer=".")' \
--intervar=input/test_pbta.hg38_multianno.txt.intervar \
--multianno=input/test_pbta.hg38_multianno.txt \
--autopvs1=input/test_pbta.autopvs1.tsv \
--outdir=../results \
--out="test_pbta"
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?

No

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