kids-first / kf-alignment-workflow

:microscope: Alignment workflow for Kids-First DRC
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✨ GATK HC CRAM to gVCF Standalone #97

Closed dmiller15 closed 4 years ago

dmiller15 commented 4 years ago

Description

This PR creates a modern GATK HaplotypeCaller CRAM to gVCF workflow. Some features of the workflow:

Breakdown of other changes:

Closes https://github.com/d3b-center/bixu-tracker/issues/721

Type of change

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How Has This Been Tested?

Please describe the tests that you ran to verify your changes. Provide instructions so we can reproduce. Please also list any relevant details for your test configuration

Test Configuration:

Checklist:

migbro commented 4 years ago

Hmmm, something seems. bit off. In giving the precalc value, you got -contamination 0.009684066666666666 as what haplotype caller ends up running. When you run verifyBamID, you get -contamination 2.4251866666666667E-5.

dmiller15 commented 4 years ago

That precalculated value I handed in was a value from a different input here: https://cavatica.sbgenomics.com/u/kfdrc-harmonization/kf-reference-pipeline/tasks/6b6d3fed-f29f-4b26-8299-86549409336e/. I ran them concurrently so I didn't know what the value would be for this input at the outset. Wasn't too concerned about making nice data, just proving it worked.