{ "params": { "// SYNTHEA PARAMETERS": {}, "n_pat": { "type": "integer", "description": "Number of patients to generate (must be >= 2)", "default": 2, "required": true, "pipeline_io": "parameter", "var_name": "params.n_pat", "examples": [2, 10, 100], "pattern": "^[0-9]+$", "validation": { "min": 2 }, "notes": "Minimum of 2 patients required (one male, one female)" }, "percent_male": { "type": "number", "description": "Percentage of male patients (between 0-1)", "default": 0.5, "required": true, "pipeline_io": "parameter", "var_name": "params.percent_male", "examples": [0.0, 0.5, 1.0], "pattern": "^0(\\.\\d+)?|1(\\.0)?$", "validation": { "min": 0.0, "max": 1.0 }, "notes": "Value must be between 0 and 1 inclusive" }, "imputed_store": { "type": "folder", "description": "Path to imputed UKBB data", "default": "/mnt/Avatar/imputed/ukbb/imputed", "required": true, "pipeline_io": "input", "var_name": "params.imputed_store", "examples": [ "/mnt/Avatar/imputed/ukbb/imputed", "/rosalind/ukbb/imputed" ], "pattern": ".*", "validation": {}, "notes": "Directory containing imputed UKBB data" }, "pheno_store": { "type": "file", "description": "Path to phenotype data file", "default": "/mnt/Avatar/dd/synthea/metadata/ukbb_phenotypes_filtered.csv", "required": true, "pipeline_io": "input", "var_name": "params.pheno_store", "examples": [ "/mnt/Avatar/dd/synthea/metadata/ukbb_phenotypes_filtered.csv" ], "pattern": ".*\\.csv$", "validation": {}, "notes": "CSV file containing filtered UKBB phenotype data" }, "disease": { "type": "string", "description": "Disease or condition to simulate", "default": "schizophrenia", "required": true, "pipeline_io": "parameter", "var_name": "params.disease", "examples": [ "schizophrenia", "healthy", "leukaemia", "Purpura and other haemorrhagic conditions" ], "pattern": ".*", "enum": [ "schizophrenia", "healthy", "leukaemia", "Purpura and other haemorrhagic conditions" ], "validation": {}, "notes": "Use 'healthy' for healthy individuals or specify a disease condition" }, "healthy_dir": { "type": "folder", "description": "Path to healthy patient data directory", "default": "/Workspace/next/registry/pipelines/digital_patient", "required": true, "pipeline_io": "input", "var_name": "params.healthy_dir", "examples": [ "/Workspace/next/registry/pipelines/digital_patient", "/mnt/Avatar/digital_patient" ], "pattern": ".*", "validation": {}, "notes": "Directory containing data for healthy patient generation" }, "outdir": { "type": "folder", "description": "Output directory for results", "default": "/mnt/omic-next-apis/wes/digital_patients", "required": true, "pipeline_io": "output", "var_name": "params.outdir", "examples": [ "/mnt/OmicNAS/dd/digital_patient", "/path/to/custom/output" ], "pattern": ".*", "validation": {}, "notes": "Directory where all pipeline results will be stored" }, "// BORZOI PARAMETERS": {}, "container_borzoi": { "type": "string", "description": "Borzoi container image", "default": "borzoi:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_borzoi", "examples": [ "borzoi:latest", "borzoi:v1.0" ], "pattern": ".*", "validation": {}, "notes": "Docker container image for Borzoi module" }, "containerOptions": { "type": "string", "description": "Container runtime options", "default": "--gpus all --rm -v /mnt:/mnt", "required": false, "pipeline_io": "parameter", "var_name": "params.containerOptions", "examples": [ "--gpus all --rm -v /mnt:/mnt", "--rm -v /data:/data" ], "pattern": ".*", "validation": {}, "notes": "Docker container runtime options for GPU usage and volume mounts" }, "project_name": { "type": "string", "description": "Project identifier", "default": "test", "required": true, "pipeline_io": "parameter", "var_name": "params.project_name", "examples": [ "test", "production", "schizophrenia_study" ], "pattern": ".*", "validation": {}, "notes": "Identifier for the digital patient project" }, "mane": { "type": "file", "description": "Path to MANE reference file", "default": "/Workspace/next/registry/pipelines/digital_patient/MANE.GRCh38.v1.3.update.tsv", "required": true, "pipeline_io": "input", "var_name": "params.mane", "examples": [ "/Workspace/next/registry/pipelines/digital_patient/MANE.GRCh38.v1.3.update.tsv" ], "pattern": ".*\\.tsv$", "validation": {}, "notes": "MANE transcripts reference file in TSV format" }, "// VCF2PROT PARAMETERS": {}, "container_vcf2prot": { "type": "string", "description": "VCF2PROT container image", "default": "vcf2prot:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_vcf2prot", "examples": [ "vcf2prot:latest", "vcf2prot:v1.0" ], "pattern": ".*", "validation": {}, "notes": "Docker container image for VCF2PROT module" }, "// RNA2PROTEINEXPRESSION PARAMETERS": {}, "container_rna2protexpression": { "type": "string", "description": "RNA2PROTEINEXPRESSION container image", "default": "rna2protexpression:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_rna2protexpression", "examples": [ "rna2protexpression:latest", "rna2protexpression:v1.0" ], "pattern": ".*", "validation": {}, "notes": "Docker container image for RNA2PROTEINEXPRESSION module" }, "containerOptions_rna2protexpression": { "type": "string", "description": "Container options for RNA2PROTEINEXPRESSION", "default": "--gpus all --rm -v /mnt:/mnt -v /dbs:/dbs", "required": false, "pipeline_io": "parameter", "var_name": "params.containerOptions_rna2protexpression", "examples": [ "--gpus all --rm -v /mnt:/mnt -v /dbs:/dbs" ], "pattern": ".*", "validation": {}, "notes": "Docker container runtime options for RNA2PROTEINEXPRESSION with GPU and database volume mounts" }, "// CORTO PARAMETERS": {}, "container_corto": { "type": "string", "description": "CORTO container image", "default": "corto:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_corto", "examples": [ "corto:latest", "corto:v1.0" ], "pattern": ".*", "validation": {}, "notes": "Docker container image for CORTO module" }, "regulon": { "type": "file", "description": "Path to regulon RDA file", "default": "/Workspace/next/registry/pipelines/digital_patient/regulon.rda", "required": true, "pipeline_io": "input", "var_name": "params.regulon", "examples": [ "/Workspace/next/registry/pipelines/digital_patient/regulon.rda" ], "pattern": ".*\\.rda$", "validation": {}, "notes": "Regulon data file in RDA format for CORTO module" }, "// CIBERSORT PARAMETERS": {}, "cibersortx_username": { "type": "string", "description": "CIBERSORTx username for authentication", "default": "gabriel.richman.2009@anderson.ucla.edu", "required": true, "pipeline_io": "parameter", "var_name": "params.cibersortx_username", "examples": [ "gabriel.richman.2009@anderson.ucla.edu" ], "pattern": "^[a-zA-Z0-9._%+-]+@[a-zA-Z0-9.-]+\\.[a-zA-Z]{2,}$", "validation": {}, "notes": "Username (email) for CIBERSORTx authentication" }, "cibersortx_token": { "type": "string", "description": "CIBERSORTx authentication token", "default": "b5b39e563fb947df4cfd4843d40fdb99", "required": true, "pipeline_io": "parameter", "var_name": "params.cibersortx_token", "examples": [ "b5b39e563fb947df4cfd4843d40fdb99" ], "pattern": "^[a-f0-9]{32}$", "validation": {}, "notes": "Authentication token for CIBERSORTx API access" }, "container_ecotyper": { "type": "string", "description": "ECOTyper container image", "default": "ecotyper:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_ecotyper", "examples": [ "ecotyper:latest", "ecotyper:v1.0" ], "pattern": ".*", "validation": {}, "notes": "Docker container image for ECOTyper module" }, "signature_matrix": { "type": "file", "description": "Path to signature matrix file", "default": "/Workspace/next/registry/pipelines/digital_patient/LM22_sourceGEP_ensg.txt", "required": true, "pipeline_io": "input", "var_name": "params.signature_matrix", "examples": [ "/Workspace/next/registry/pipelines/digital_patient/LM22_sourceGEP_ensg.txt" ], "pattern": ".*\\.txt$", "validation": {}, "notes": "Signature matrix file for CIBERSORTx analysis" }, "ecotyper_outdir": { "type": "folder", "description": "Output directory for ECOTyper results", "default": "/mnt/omic-next-apis/wes/digital-patients/ecotyper", "required": true, "pipeline_io": "output", "var_name": "params.ecotyper_outdir", "examples": [ "/mnt/OmicNAS/olamide/ecotyper/results/ecotyper" ], "pattern": ".*", "validation": {}, "notes": "Directory where ECOTyper results will be stored" } } }