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schema.yaml
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---
dataset_id:
type: 'String'
required: true
help: 'Dataset identifier'
variant_type:
type: 'List'
required: true
help: 'List of germline variant types to be called'
default:
- "gSV"
- "gCNV"
choices:
- "gSV"
- "gCNV"
run_discovery:
type: 'Bool'
required: true
help: 'Identify SVs using Delly/Manta'
default:
- true
run_regenotyping:
type: 'Bool'
required: true
help: 'Regenotype SVs/CNVs using Delly'
default:
- false
run_delly:
type: 'Bool'
required: true
help: 'Run Delly'
default:
- true
run_manta:
type: 'Bool'
required: true
help: 'Run Manta'
default:
- true
run_qc:
type: 'Bool'
required: true
help: 'Run QC'
default:
- true
output_dir:
type: 'Path'
mode: 'w'
required: true
help: 'Absolute path to output directory'
reference_fasta:
type: 'Path'
mode: 'r'
required: true
help: 'Absolute path to a reference FASTA file'
exclusion_file:
type: 'Path'
mode: 'r'
required: true
help: 'Absolute path to an exclusion file'
mappability_map:
type: 'Path'
mode: 'r'
required: true
help: 'Absolute path to a mappability file'
map_qual:
type: 'Integer'
required: true
help: 'Minimum Paired-End (PE) mapping quality for Delly'
default: 20
merged_sites_gSV:
type: 'Path'
mode: 'r'
required: false
help: 'Absolute path to a BCF/VCF file containing merged gSV sites across samples. Required when `run_regenotyping = true`.'
merged_sites_gCNV:
type: 'Path'
mode: 'r'
required: false
help: 'Absolute path to a BCF/VCF file containing merged gCNV sites across samples. Required when `run_regenotyping = true`.'
save_intermediate_files:
type: 'Bool'
required: true
help: 'Save intermediate files from the pipeline'
default:
- false
base_resource_update:
type: 'ResourceUpdateNamespace'
required: false
help: 'User-defined modifications for adjusting base resource allocations for processes'
elements:
memory:
type: 'ResourceUpdateList'
required: false
help: 'List of memory updates'
cpus:
type: 'ResourceUpdateList'
required: false
help: 'List of CPU updates'
input:
type: 'InputNamespace'
required: true
help: 'Input samples'
elements:
BAM:
type: 'InputBAMNamespace'
required: true
help: 'Input BAM for germline SV/CNV calling'
elements:
normal:
type: 'BAMEntryList'
required: true
help: 'Input BAM'
tumor:
type: 'BAMEntryList'
required: false
help: 'Input tumor BAM. Only to be used in exceptional use cases. Remove `normal` BAM if this is used.'