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Compile Reads

Step 1 -- intra-patient genotyping

There are two variantion:

  • compile_reads.R : Works with Research ACCESS and Clinical IMPACT

  • compile_reads_all.R: Works with Research ACCESS, Clinical ACCESS and Clinical IMPACT

The first step of the pipeline is to genotype all the variants of interest in the included samples (this means plasma, buffy coat, DMP tumor, DMP normal, and donor samples). Once we obtained the read counts at every loci of every sample, we then generate a table of VAFs and call status for each variant in all samples within a patient in the next step.

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Usage compile_reads.R

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Usage compile_reads_all.R

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Default

Default options can be found

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What compile_reads does

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  • -- similar to the one for genotype-variants

    • DMP calls from cbio repo

    • ACCESS calls from SNV pipeline

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, for donor bams

  • Obtain all variants genotyped in any patient,

  • Genotype with

/unfiltered/bam

unfilterednormal

P-xxxxxxx

DMP Tumor ID

NA

NA

/DMP/bam

DMP_Tumor

P-xxxxxxx

DMP Normal ID

NA

NA

/DMP/bam

DMP_Normal

P-xxxxxxx

Generate unique variants listarrow-up-right

  • Tag hotspots on unique variantsarrow-up-right

  • Genotype with genotype-variantsarrow-up-right

  • Sample_Barcode

    duplex_bams

    simplex_bams

    standard_bam

    Sample_Type

    dmp_patient_id

    plasma sample id

    /duplex/bam

    /simplex/bam

    NA

    duplex

    P-xxxxxxx

    buffy coat id

    NA

    here
    For each patientarrow-up-right
    Create a sample sheetarrow-up-right
    Generate all variants of interestsarrow-up-right
    Afterwardsarrow-up-right
    generate a all unique list of variantsarrow-up-right
    genotype-variantsarrow-up-right

    NA

    Rscript R/compile_reads.R -h                                        
    usage: R/compile_reads.R [-h] [-m MASTERREF] [-o RESULTSDIR]
                             [-pb POOLEDBAMDIR] [-fa FASTAPATH]
                             [-gt GENOTYPERPATH] [-dmp DMPDIR] [-mb MIRRORBAMDIR]
                             [-dmpk DMPKEYPATH]
    
    optional arguments:
      -h, --help            show this help message and exit
      -m MASTERREF, --masterref MASTERREF
                            File path to master reference file
      -o RESULTSDIR, --resultsdir RESULTSDIR
                            Output directory
      -pb POOLEDBAMDIR, --pooledbamdir POOLEDBAMDIR
                            Directory for all pooled bams [default]
      -fa FASTAPATH, --fastapath FASTAPATH
                            Reference fasta path [default]
      -gt GENOTYPERPATH, --genotyperpath GENOTYPERPATH
                            Genotyper executable path [default]
      -dmp DMPDIR, --dmpdir DMPDIR
                            Directory of clinical DMP IMPACT repository [default]
      -mb MIRRORBAMDIR, --mirrorbamdir MIRRORBAMDIR
                            Mirror BAM file directory [default]
      -dmpk DMPKEYPATH, --dmpkeypath DMPKEYPATH
                            DMP mirror BAM key file [default]
    Rscript R/compile_reads_all.R -h
    usage: R/compile_reads_all.R [-h] [-m MASTERREF] [-o RESULTSDIR]
                                 [-pid PROJECTID] [-pb POOLEDBAMDIR]
                                 [-fa FASTAPATH] [-gt GENOTYPERPATH] [-dmp DMPDIR]
                                 [-mb MIRRORBAMDIR] [-mab MIRRORACCESSBAMDIR]
                                 [-dmpk DMPKEYPATH] [-dmpak DMPACCESSKEYPATH]
    
    optional arguments:
      -h, --help            show this help message and exit
      -m MASTERREF, --masterref MASTERREF
                            File path to master reference file
      -o RESULTSDIR, --resultsdir RESULTSDIR
                            Output directory
      -pid PROJECTID, --projectid PROJECTID
                            Project ID for submitted jobs involved in this run
      -pb POOLEDBAMDIR, --pooledbamdir POOLEDBAMDIR
                            Directory for all pooled bams [default]
      -fa FASTAPATH, --fastapath FASTAPATH
                            Reference fasta path [default]
      -gt GENOTYPERPATH, --genotyperpath GENOTYPERPATH
                            Genotyper executable path [default]
      -dmp DMPDIR, --dmpdir DMPDIR
                            Directory of clinical DMP repository [default]
      -mb MIRRORBAMDIR, --mirrorbamdir MIRRORBAMDIR
                            Mirror BAM file directory [default]
      -mab MIRRORACCESSBAMDIR, --mirroraccessbamdir MIRRORACCESSBAMDIR
                            Mirror BAM file directory for MSK-ACCESS [default]
      -dmpk DMPKEYPATH, --dmpkeypath DMPKEYPATH
                            DMP mirror BAM key file [default]
      -dmpak DMPACCESSKEYPATH, --dmpaccesskeypath DMPACCESSKEYPATH
                            DMP mirror BAM key file for MSK-ACCESS [default]