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Tranches optimization #95

Merged
merged 91 commits into from
Aug 18, 2022
Merged

Tranches optimization #95

merged 91 commits into from
Aug 18, 2022

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abhi18av
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@abhi18av abhi18av commented Mar 29, 2022

  • Integrate the minVQSLod value from the tranches file in the optimization subworkflow
  • Test the optimization workflow (dataset)
  • Accommodate the publication of BAM files via GATK_HAPLOTYPE_CALLER_*
  • Add the Graphviz DOT file

abhi18av and others added 30 commits March 21, 2022 17:52
Updated results_dirs #47 , added couple of notes and changed ```-a``` for LoFreq filtering to a more standard value.
fixed overzealous substitutions that often resulted in altered sample names
Also output a realigned bam file.
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abhi18av commented Aug 14, 2022

With the addition of this PR, there would be a new file published (for logging purposes) in /cohort/snp_variant_files/vqsr/best_annotations/all_annotations_data.json enumerating the annotation order and minVQSLod values or these annotations.

📗 The best annotation below was determined to be ANN3 with minVQSLod value to be -414.2304

[
    {
        "minVQSLod": "-8418.0842",
        "annotationsOrder": " DP, AS_MQ, AS_QD, AS_FS, AS_MQRankSum, AS_SOR, AS_ReadPosRankSum",
        "annotationsCount": "ANN7"
    },
    {
        "minVQSLod": "-8444.1324",
        "annotationsOrder": " DP, AS_MQ, AS_QD, AS_FS, AS_MQRankSum, AS_SOR",
        "annotationsCount": "ANN6"
    },
    {
        "minVQSLod": "-8467.8560",
        "annotationsOrder": " DP, AS_MQ, AS_QD, AS_FS, AS_MQRankSum",
        "annotationsCount": "ANN5"
    },
    {
        "minVQSLod": "-414.3786",
        "annotationsOrder": " DP, AS_MQ, AS_QD, AS_FS",
        "annotationsCount": "ANN4"
    },
    {
        "minVQSLod": "-414.2304",
        "annotationsOrder": " DP, AS_MQ, AS_QD",
        "annotationsCount": "ANN3"
    },
    {
        "minVQSLod": "-415.0220",
        "annotationsOrder": " DP, AS_MQ",
        "annotationsCount": "ANN2"
    }
]

@abhi18av abhi18av requested review from TimHHH and LennertVerboven and removed request for TimHHH and LennertVerboven August 14, 2022 15:37
@abhi18av
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@TimHHH and @LennertVerboven , could you please take this branch tranches-optimization for a spin on your cluster and datasets?

If all looks good then please go ahead and merge this.

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TimHHH commented Aug 18, 2022

@abhi18av what is this 'Graphviz DOT file' and what is its purpose?

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@TimHHH that file is basically the graph which gets generated, we can use that to create a PNG of the flow. It doesn't change anything in the pipeline.

Apart from that, is this branch working as expected?

@TimHHH TimHHH merged commit a302193 into master Aug 18, 2022
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TimHHH commented Aug 18, 2022

all good, nice

@TimHHH TimHHH deleted the tranches-optimization branch September 12, 2022 09:23
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3 participants