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🧹 cleared ou a premature prod wf update and removed extra input
📝 added readme
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# Kids First DRC GATK HaplotypeCaller Modified Ploidy BETA Workflow | ||
This is a research workflow for users wishing to modify the ploidy of certain | ||
regions of their existing GVCF calls. | ||
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## Inputs | ||
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- input_cram: Input CRAM file | ||
- input_gvcf: GVCF generated in standard workflow | ||
- biospecimen_name: String name of biospcimen | ||
- output_basename: String to use as the base for output filenames | ||
- reference_fasta: FASTA file that was used during alignment. Also need | ||
corresponding `.fai` and `.dict` files. | ||
- region: Specific region to pull, in format 'chr21' or 'chr3:1-1000' | ||
- dbsnp_vcf: dbSNP vcf file | ||
- dbsnp_idx: dbSNP vcf index file | ||
- contamination: Precalculated contamination value. Providing the value here | ||
will skip the run of VerifyBAMID and use the provided value as ground truth. | ||
- contamination_sites_bed: .Bed file for markers used in this | ||
analysis,format(chr\tpos-1\tpos\trefAllele\taltAllele) | ||
- contamination_sites_mu: .mu matrix file of genotype matrix | ||
- contamination_sites_ud: .UD matrix file from SVD result of genotype matrix | ||
- re_calling_interval_list: Interval list to re-call | ||
- wgs_evaluation_interval_list: Target intervals to restrict GVCF metric | ||
analysis (for VariantCallingMetrics) | ||
- sample_ploidy: If sample/interval is expected to not have ploidy=2, enter expected ploidy | ||
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## Outputs | ||
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- mixed_ploidy_gvcf: Updated complete GVCF in which the desired region has had its ploidy updated |
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