{ "params": { "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]+$", "validation": { "min": 2 }, "notes": "Minimum of 2 patients required (one male, one female)" }, "percent_male": { "type": "number", "description": "Percentage of male patients (between 0-1)", "default": 0.5, "required": true, "pipeline_io": "parameter", "var_name": "params.percent_male", "examples": [0.0, 0.5, 1.0], "validation": { "min": 0.0, "max": 1.0 }, "notes": "Value must be between 0 and 1 inclusive" }, "disease": { "type": "string", "description": "Disease or condition to simulate", "default": "schizophrenia", "required": true, "pipeline_io": "parameter", "var_name": "params.disease", "examples": ["schizophrenia", "healthy", "leukaemia"], "enum": ["schizophrenia", "healthy", "leukaemia", "Purpura and other haemorrhagic conditions"], "notes": "Use 'healthy' for healthy individuals or specify a disease condition" }, "project_name": { "type": "string", "description": "Project identifier", "default": "test", "required": true, "pipeline_io": "parameter", "var_name": "params.project_name", "examples": ["test", "production", "schizophrenia_study"] }, "imputed_store": { "type": "folder", "description": "Path to imputed UKBB data directory", "default": "/omic/eureka/digital-patients/imputed", "required": true, "pipeline_io": "input", "var_name": "params.imputed_store", "examples": ["/omic/eureka/digital-patients/imputed"], "notes": "Directory containing imputed UKBB GWAS .bgz files" }, "pheno_store": { "type": "file", "description": "Path to phenotype data file", "default": "/omic/eureka/digital-patients/ukbb_phenotypes_filtered.csv", "required": true, "pipeline_io": "input", "var_name": "params.pheno_store", "examples": ["/omic/eureka/digital-patients/ukbb_phenotypes_filtered.csv"], "pattern": ".*\\.csv$", "notes": "CSV file containing filtered UKBB phenotype data" }, "healthy_dir": { "type": "folder", "description": "Path to healthy patient data directory (gnomad files)", "default": "/omic/eureka/digital-patients/healthy", "required": true, "pipeline_io": "input", "var_name": "params.healthy_dir", "examples": ["/omic/eureka/digital-patients/healthy"], "notes": "Directory containing gnomad.genomes.v4.1.sites.{male,female}.txt" }, "synthea_support_dir": { "type": "folder", "description": "Path to Synthea supporting data (VCF templates, liftover, genome)", "default": "/omic/eureka/digital-patients/supporting-data", "required": true, "pipeline_io": "input", "var_name": "params.synthea_support_dir", "examples": ["/omic/eureka/digital-patients/supporting-data"], "notes": "Must contain vcf/vcf_template.vcf, ucsc-liftover/hg19ToHg38.over.chain.gz, genome/hg38.fa" }, "mane": { "type": "file", "description": "Path to MANE reference file", "default": "/omic/eureka/digital-patients/MANE.GRCh38.v1.3.update.tsv", "required": true, "pipeline_io": "input", "var_name": "params.mane", "examples": ["/omic/eureka/digital-patients/MANE.GRCh38.v1.3.update.tsv"], "pattern": ".*\\.tsv$", "notes": "MANE transcripts reference file in TSV format" }, "regulon": { "type": "file", "description": "Path to regulon RDA file", "default": "/omic/eureka/digital-patients/regulon.rda", "required": true, "pipeline_io": "input", "var_name": "params.regulon", "examples": ["/omic/eureka/digital-patients/regulon.rda"], "pattern": ".*\\.rda$", "notes": "Regulon data file in RDA format for CORTO module" }, "signature_matrix": { "type": "file", "description": "Path to signature matrix file for CIBERSORTx", "default": "/omic/eureka/digital-patients/LM22_sourceGEP_ensg.txt", "required": true, "pipeline_io": "input", "var_name": "params.signature_matrix", "examples": ["/omic/eureka/digital-patients/LM22_sourceGEP_ensg.txt"], "pattern": ".*\\.txt$", "notes": "Signature matrix file for CIBERSORTx analysis" }, "outdir": { "type": "folder", "description": "Output directory for results", "default": "/omic/eureka/digital-patients/output", "required": true, "pipeline_io": "output", "var_name": "params.outdir", "examples": ["/omic/eureka/digital-patients/output"], "notes": "Directory where all pipeline results will be stored" }, "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", "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", "notes": "Authentication token for CIBERSORTx API access" }, "container_borzoi": { "type": "string", "description": "Borzoi container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/borzoi:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_borzoi" }, "container_vcf2prot": { "type": "string", "description": "VCF2PROT container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/vcf2prot:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_vcf2prot" }, "container_rna2protexpression": { "type": "string", "description": "RNA2PROTEINEXPRESSION container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/rna2protexpression:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_rna2protexpression" }, "container_corto": { "type": "string", "description": "CORTO container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/corto:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_corto" }, "container_ecotyper": { "type": "string", "description": "ECOTyper/CIBERSORTx container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/ecotyper:latest", "required": true, "pipeline_io": "parameter", "var_name": "params.container_ecotyper" }, "container_synthea": { "type": "string", "description": "Synthea container image", "default": "harbor.cluster.omic.ai/omic/digital-patients/synthea:cudf", "required": true, "pipeline_io": "parameter", "var_name": "params.container_synthea" } } }