Clinical-Genomics-Lund / nextflow_wgs

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Update Gnomad #148

Closed Jakob37 closed 8 months ago

Jakob37 commented 9 months ago

Description

What is changed? What is the result of the changes?

Close #95

Type of change

Checklist:

Minor change

Instructions for the reviewers

How to test the changes

  1. Step 1
  2. Step 2

Expected outcome

[Optional] Additional information

Review

Review performed by:

Testing performed by:

Post-merge

Jakob37 commented 9 months ago

First run went through with similar looking AFs, but looks like not all information is yet there in the minified updated version.

New:

1       pos rs707475        G       A       .       PASS    AF=0.399787 

Old:

1       pos rs707475        G       A       .       PASS    AF=0.399921;popmax=afr;AF_popmax=0.498193 

Next, check if this is a banta.pl issue, and/or whether format of the original data differs

Jakob37 commented 8 months ago

This is ready for testing now. I realized my final test run was performed using the wrong branch, so I will need to restart the testing when back from parental-leave-week.

Jakob37 commented 8 months ago

Test samples successfully completed. I will do some comparisons of the results. Then this PR should be ready for preparation for validation.

Jakob37 commented 8 months ago

Rank score changes looks OK

orig_gnomad_v4_heat