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{
"$schema": "https://json-schema.org/draft/2020-12/schema",
"$id": "https://raw.githubusercontent.com/nf-core/stableexpression/main/nextflow_schema.json",
"title": "nf-core/stableexpression pipeline parameters",
"description": "This pipeline is dedicated to identifying the most stable genes within a single or multiple expression dataset(s). This is particularly useful for identifying the most suitable RT-qPCR reference genes for a specific species.",
"type": "object",
"$defs": {
"input_output_options": {
"title": "Input/output options",
"type": "object",
"fa_icon": "fas fa-terminal",
"description": "Define where the pipeline should find input data and save output data.",
"required": ["species", "outdir"],
"properties": {
"species": {
"type": "string",
"description": "Scientifc species name (genus and species)",
"fa_icon": "fas fa-hippo",
"pattern": "^([a-zA-Z]+)[_ ]([a-zA-Z]+)[_ a-zA-Z]*$",
"help_text": "At least genus and species name should be supplied. Words should be separated by ` ` or `_`. Note that character case is ignored. Examples: `--species 'Arabidopsis thaliana'`, `--species 'homo_sapiens' or `--species MARMOTA_MARMOTA_MARMOTA`."
},
"outdir": {
"type": "string",
"format": "directory-path",
"description": "Output directory",
"help_text": "The output directory where the results will be saved. You have to use absolute paths to storage on Cloud infrastructure.",
"fa_icon": "fas fa-folder-open"
},
"datasets": {
"type": "string",
"format": "file-path",
"exists": true,
"schema": "assets/schema_datasets.json",
"pattern": "^\\S+\\.(csv|yaml|yml|dat)$",
"description": "Custom datasets (counts + designs)",
"help_text": "Path to CSV / YAML file listing your own count datasets and their related experimental design. This file should be a comma-separated file with 4 columns (`counts`, `design`, `platform` and `normalised`). It must have a header row. Before running the pipeline, and for each count dataset provided by you, a design file with information about the samples in your experiment is required. Combine with --skip_fetch_eatlas_accessions if you only want to analyse your own count datasets. Otherwise, accessions from Expression Atlas and GEO will be fetched automatically. See [usage docs](https://nf-co.re/stableexpression/usage#samplesheet-input) for more information. ",
"fa_icon": "fas fa-file-csv"
},
"keywords": {
"type": "string",
"description": "Keywords used for selecting specific Expression Atlas / GEO accessions",
"fa_icon": "fas fa-font",
"pattern": "(([a-zA-Z,]+))?",
"help_text": "Keywords (separated by commas) to use when retrieving specific experiments from Expression Atlas and / or GEO datasets. The pipeline will select all Expression Atlas experiments / GEO datasets that contain the provided keywords in their description of in one of the condition names. Example: `--keywords 'stress,flowering'`. This parameter is unused if --skip_fetch_eatlas_accessions is set and --fetch_geo_accessions is not set."
},
"target_genes": {
"type": "string",
"description": "Target genes",
"fa_icon": "fas fa-arrows-alt-h",
"help_text": "One or multiple target genes (separated by commas). These can be gene IDs (as provided in your input datasets), Ensembl gene IDs, or gene symbols."
},
"target_gene_file": {
"type": "string",
"description": "File containing target genes",
"format": "file-path",
"exists": true,
"fa_icon": "fas fa-arrows-alt-h",
"help_text": "File containing one or multiple target genes (one ID per line). These can be gene IDs (as provided in your input datasets), Ensembl gene IDs, or gene symbols."
},
"platform": {
"type": "string",
"enum": ["rnaseq", "microarray"],
"description": "Only download from this platform",
"fa_icon": "fas fa-arrows-alt-h",
"help_text": "By default, data from both RNA-seq and Microarray platforms are downloaded. Setting this parameter applies a filter to get data from only one of the two platforms. This filter is only used while fetching appropriate Expression atlas / GEO accessions. It will not filter accessions provided directly by the user."
},
"accessions_only": {
"type": "boolean",
"description": "Only get accessions from Expression Atlas / GEO and exit.",
"fa_icon": "far fa-stop-circle",
"help_text": "Use this option if you only want to get Expression Atlas accessions and skip the rest of the pipeline."
},
"download_only": {
"type": "boolean",
"description": "Only get accessions from Expression Atlas / GEO and download the selected datasets.",
"fa_icon": "far fa-stop-circle",
"help_text": "Use this option if you only want to get Expression Atlas / GEO accessions, download the selected data, and skip the rest of the pipeline."
},
"email": {
"type": "string",
"description": "Email address for completion summary.",
"fa_icon": "fas fa-envelope",
"help_text": "Set this parameter to your e-mail address to get a summary e-mail with details of the run sent to you when the workflow exits. If set in your user config file (`~/.nextflow/config`) then you don't need to specify this on the command line for every run.",
"pattern": "^([a-zA-Z0-9_\\-\\.]+)@([a-zA-Z0-9_\\-\\.]+)\\.([a-zA-Z]{2,5})$"
},
"multiqc_title": {
"type": "string",
"description": "MultiQC report title. Printed as page header, used for filename if not otherwise specified.",
"fa_icon": "fas fa-file-signature"
}
}
},
"public_data_options": {
"title": "Public data options",
"type": "object",
"fa_icon": "fas fa-book-atlas",
"description": "Options for fetching experiment data from Expression Atlas / GEO.",
"properties": {
"skip_fetch_eatlas_accessions": {
"type": "boolean",
"fa_icon": "fas fa-cloud-arrow-down",
"description": "Skip fetching Expression Atlas accessions",
"help_text": "Expression Atlas accessions are automatically fetched by default. Set this parameter to skip this step."
},
"fetch_geo_accessions": {
"type": "boolean",
"fa_icon": "fas fa-cloud-arrow-down",
"description": "Fetch GEO accessions from NCBI",
"help_text": "Set this parameter to fetch GEO accessions from NCBI. This feature is experimental and may not work as expected. Please report any issues to https://github.com/nf-core/stableexpression."
},
"accessions": {
"type": "string",
"pattern": "([A-Z0-9-]+,?)+",
"description": "Expression Atlas / GEO accession(s) to include",
"fa_icon": "fas fa-address-card",
"help_text": "Provide Expression Atlas / GEO accession(s) that you want to download. The accessions should be comma-separated. Example: `--accessions E-MTAB-552,E-GEOD-61690,GSE8165,GSE8161`. Combine with --skip_fetch_eatlas_accessions if you want only these accessions to be used. User provided accessions are prioritised over excluded accessions."
},
"accessions_file": {
"type": "string",
"format": "file-path",
"exists": true,
"description": "File containing Expression Atlas / GEO accession(s) to download",
"fa_icon": "fas fa-file",
"help_text": "File containing Expression Atlas / GEO accession(s) that you want to download. One accession per line. Example: `--accessions_file included_accessions.txt`. Combine with --skip_fetch_accessions if you want only these accessions to be used. User provided accessions are prioritised over excluded accessions."
},
"excluded_accessions": {
"type": "string",
"pattern": "([A-Z0-9-]+,?)+",
"description": "Expression Atlas accession(s) to exclude",
"fa_icon": "fas fa-id-card",
"help_text": "Provide Expression Atlas / GEO accession(s) that you want to exclude. The accessions should be comma-separated. Example: `--excluded_accessions E-MTAB-552,E-GEOD-61690`"
},
"excluded_accessions_file": {
"type": "string",
"format": "file-path",
"exists": true,
"description": "File containing Expression Atlas accession(s) to exclude",
"fa_icon": "fas fa-file",
"help_text": "File containing Expression Atlas / GEO accession(s) that you want to exclude. One accession per line. Example: `--excluded_accessions_file excluded_accessions.txt`."
}
}
},
"idmapping_options": {
"title": "ID mapping options",
"type": "object",
"fa_icon": "fas fa-map",
"description": "Options for mapping gene IDs.",
"properties": {
"skip_id_mapping": {
"type": "boolean",
"description": "Skip g:Profiler ID mapping step",
"fa_icon": "fas fa-ban",
"help": "If you don't want to map gene IDs with g:Profiler, you can skip this step by providing `--skip_id_mapping`. It can be in particular useful if the g:Profiler is down and if you already have a custom mapping file."
},
"skip_cleaning_gene_ids": {
"type": "boolean",
"description": "Skip cleaning gene IDs step",
"fa_icon": "fas fa-ban",
"help": "If you don't want to clean gene IDs, you can skip this step by providing `--skip_cleaning_gene_ids`. Note that gene ID cleaning is automatically disabled with `--skip_id_mapping`."
},
"gprofiler_target_db": {
"type": "string",
"description": "Experimental: target database for g:Profiler",
"fa_icon": "fas fa-divide",
"enum": ["ENSG", "ENTREZGENE", "UNIPROTSPTREMBL", "UNIPROTSWISSPROT"],
"default": "ENSG",
"help_text": "Experimental: target database for g:Profiler. You can see the full list of available target databases at https://biit.cs.ut.ee/gprofiler/convert."
},
"gene_id_mapping": {
"type": "string",
"format": "file-path",
"exists": true,
"schema": "assets/schema_gene_id_mapping.json",
"mimetype": "text/csv",
"pattern": "^\\S+\\.(csv|dat)$",
"description": "Custom gene id mapping file",
"help_text": "Path to comma-separated file containing custom gene id mappings. Each row represents a mapping from the original gene ID in your count datasets to a prefered gene ID. The mapping file should be a comma-separated file with 2 columns (original_gene_id and gene_id) and a header row.",
"fa_icon": "fas fa-file"
},
"gene_metadata": {
"type": "string",
"format": "file-path",
"exists": true,
"schema": "assets/schema_gene_metadata.json",
"mimetype": "text/csv",
"pattern": "^\\S+\\.(csv|dat)$",
"description": "Custom gene metadata file",
"help_text": "Path to comma-separated file containing custom gene metadata information. Each row represents a gene and links its gene ID to its name and description. The metadata file should be a comma-separated file with 3 columns (gene_id, name and description) and a header row.",
"fa_icon": "fas fa-file"
},
"min_occurrence_quantile": {
"type": "number",
"description": "Minimum quantile for the frequency of occurrence",
"fa_icon": "fas fa-battery-three-quarters",
"minimum": 0,
"maximum": 1,
"default": 0.2,
"help_text": "To avoid genes that are rarely observed, genes less represented than the specified quantile will be filtered out. For example, value of 0.2 means that the 20% less represented will be filtered out. This filter is applied before using the absolute filter `--min_occurrence_freq`."
},
"min_occurrence_freq": {
"type": "number",
"description": "Minimum frequency of occurrence among all datasets",
"fa_icon": "fas fa-battery-three-quarters",
"minimum": 0,
"maximum": 1,
"default": 0.1,
"help_text": "To avoid genes that are rarely observed, genes showing a frequency of occurrence below this threshold will be filtered out."
}
}
},
"sample_filtering_options": {
"title": "Sample filtering options",
"type": "object",
"fa_icon": "fas fa-chart-line",
"description": "Options for filtering samples based on their expression levels.",
"properties": {
"max_zero_ratio": {
"type": "number",
"description": "Maximum ratio of zero counts to total counts",
"fa_icon": "fas fa-divide",
"minimum": 0,
"maximum": 1,
"default": 0.9,
"help_text": "A filter is set up to avoid samples that contain a high proportion of zero counts. All samples with a ratio of zero counts to total counts above this threshold will be filtered out."
},
"max_null_ratio": {
"type": "number",
"description": "Maximum ratio of null values",
"fa_icon": "fas fa-divide",
"minimum": 0,
"maximum": 1,
"default": 0.9,
"help_text": "A filter is set up to avoid samples that contain a high proportion of zero counts. All samples with a ratio of zero counts to total counts above this threshold will be filtered out."
},
"max_null_ratio_valid_sample": {
"type": "number",
"description": "Maximum ratio of null values in a sample for it to be considered in the computation of the null value malus",
"fa_icon": "fas fa-divide",
"minimum": 0,
"maximum": 1,
"default": 0.75,
"help_text": "After filtering out samples with a very high proportion of zero counts (via `--max_null_ratio`), a second filter is set up to avoid samples that contain a substantial proportion of null values to be considered in the malus of null values comprised in the stability score."
}
}
},
"statistical_options": {
"title": "Statistics options",
"type": "object",
"fa_icon": "fas fa-chart-line",
"description": "Statistical options for normalisation and calculation of gene expression variation.",
"properties": {
"normalisation_method": {
"type": "string",
"description": "Count normalisation method",
"fa_icon": "fas fa-divide",
"enum": ["tpm", "cpm"],
"default": "tpm",
"help_text": "Raw RNAseq data must be normalised before further processing. `tmp offers a more accurate representation of gene expression levels as it is unbiased toward gene length. However, you can choose `cpm` if you do not have access to a genome annotation."
},
"gff": {
"type": "string",
"format": "file-path",
"exists": true,
"mimetype": "text/tsv",
"pattern": "^\\S+\\.(gff|dat)$",
"description": "Genome annotation file (GFF format)",
"help_text": "Path to genome annotation file (GFF format). Cannot be compressed.",
"fa_icon": "fas fa-file"
},
"gene_length": {
"type": "string",
"format": "file-path",
"exists": true,
"schema": "assets/schema_gene_length.json",
"mimetype": "text/csv",
"pattern": "^\\S+\\.(csv|tsv|dat)$",
"description": "Gene length file",
"help_text": "Path to comma-separated file containing gene lengths. Each row represents a gene and gives the length of its longest transcript. The file should be a comma-separated file with 2 columns (gene_id and length) and a header row.",
"fa_icon": "fas fa-file"
},
"quantile_norm_target_distrib": {
"type": "string",
"description": "Target distribution for quantile normalisation",
"fa_icon": "fas fa-chart-bar",
"enum": ["uniform", "normal"],
"default": "uniform",
"help_text": "In order to compare counts between samples and different datasets, all normalised counts are quantile normalised and mapped to a specific distribution. The pipeline uses scikit-learn's quantile_transform function. You can select the target distribution to map counts to."
},
"missing_value_imputer": {
"type": "string",
"description": "Type of imputation method to use for missing values",
"fa_icon": "fas fa-battery-three-quarters",
"enum": ["iterative", "knn", "gene_mean"],
"default": "iterative",
"help_text": "The pipeline provides three options for imputing missing values: iterative, k-nearest neighbors, and gene mean. Iterative imputation uses a bayesian iterative algorithm to fill in missing values. K-nearest neighbors imputation uses a k-nearest neighbors algorithm to fill in missing values. Gene mean imputation is a very basic method that replaces missing values with the mean expression level of the gene across all samples."
}
}
},
"stability_scoring_options": {
"title": "Stability scoring options",
"type": "object",
"fa_icon": "fas fa-chart-line",
"description": "Options relative to assessment of stability for each gene.",
"properties": {
"nb_sections": {
"type": "integer",
"description": "Number of sections to divide genes into for stability scoring.",
"fa_icon": "fas fa-sort-numeric-up-alt",
"minimum": 1,
"help_text": "All genes are divided into sections based on their expression levels. Set this parameter to modify the number of sections."
},
"nb_candidates_per_section": {
"type": "integer",
"description": "Number of candidate genes to keep for stability scoring in each section",
"fa_icon": "fas fa-sort-numeric-up-alt",
"minimum": 1,
"help_text": "Number of candidate genes to keep in each section for stability scoring. Within each section, the top candidates are selected based on the descriptor chosen with `--candidate_selection_descriptor`."
},
"skip_genorm": {
"type": "boolean",
"description": "Run Genorm",
"fa_icon": "fas fa-check",
"help": "Skip Genorm by setting this parameter to true. In this case, by default, only Normfinder will participate in the stability score."
},
"stability_score_weights": {
"type": "string",
"description": "Weights for stability score calculation",
"fa_icon": "fas fa-balance-scale",
"help_text": "Weights for Normfinder / Genorm / Coefficient of Variation (CV) / Robust Coefficient of Variation on Median (RCVM) respectively. Must be a comma-separated string. Example: 0.5,0.5,0.0,0",
"pattern": "^\\d+(\\.\\d+)?,\\d+(\\.\\d+)?,\\d+(\\.\\d+)?,\\d+(\\.\\d+)?$"
}
}
},
"scalability_options": {
"title": "Scalability options",
"type": "object",
"fa_icon": "fas fa-terminal",
"description": "Options to improve pipeline scalability and robustness",
"properties": {
"random_sampling_size": {
"type": "integer",
"description": "Number of public dataset samples to choose randomly before downloading.",
"fa_icon": "fas fa-sort-numeric-up-alt",
"minimum": 1,
"help_text": "When dealing with species for which there is a large number (eg. >10000) of samples considering all the downloaded datasets, users may encounter RAM issues (eg. errors with `137` exit codes). In such cases, it is recommended to sample a random subset of these datasets to reduce the computational load. A first subsampling is performedduring the search for Expression Atlas accessions. In case there is still room for datasets and if the `--fetch_geo_accessions` flag was set, a second ssubsampling is performed during the search for NCBI GEO accessions."
},
"random_sampling_seed": {
"type": "integer",
"description": "Seed for dataset random sampling.",
"fa_icon": "fas fa-sort-numeric-up-alt",
"minimum": 0,
"help_text": "Seed for dataset random sampling. This ensures reproducibility of the random sampling process. Changing the seed will result in a different random sample being selected."
}
}
},
"institutional_config_options": {
"title": "Institutional config options",
"type": "object",
"fa_icon": "fas fa-university",
"description": "Parameters used to describe centralised config profiles. These should not be edited.",
"help_text": "The centralised nf-core configuration profiles use a handful of pipeline parameters to describe themselves. This information is then printed to the Nextflow log when you run a pipeline. You should not need to change these values when you run a pipeline.",
"properties": {
"custom_config_version": {
"type": "string",
"description": "Git commit id for Institutional configs.",
"default": "master",
"hidden": true,
"fa_icon": "fas fa-users-cog"
},
"custom_config_base": {
"type": "string",
"description": "Base directory for Institutional configs.",
"default": "https://raw.githubusercontent.com/nf-core/configs/master",
"hidden": true,
"help_text": "If you're running offline, Nextflow will not be able to fetch the institutional config files from the internet. If you don't need them, then this is not a problem. If you do need them, you should download the files from the repo and tell Nextflow where to find them with this parameter.",
"fa_icon": "fas fa-users-cog"
},
"config_profile_name": {
"type": "string",
"description": "Institutional config name.",
"hidden": true,
"fa_icon": "fas fa-users-cog"
},
"config_profile_description": {
"type": "string",
"description": "Institutional config description.",
"hidden": true,
"fa_icon": "fas fa-users-cog"
},
"config_profile_contact": {
"type": "string",
"description": "Institutional config contact information.",
"hidden": true,
"fa_icon": "fas fa-users-cog"
},
"config_profile_url": {
"type": "string",
"description": "Institutional config URL link.",
"hidden": true,
"fa_icon": "fas fa-users-cog"
}
}
},
"generic_options": {
"title": "Generic options",
"type": "object",
"fa_icon": "fas fa-file-import",
"description": "Less common options for the pipeline, typically set in a config file.",
"help_text": "These options are common to all nf-core pipelines and allow you to customise some of the core preferences for how the pipeline runs.\n\nTypically these options would be set in a Nextflow config file loaded for all pipeline runs, such as `~/.nextflow/config`.",
"properties": {
"version": {
"type": "boolean",
"description": "Display version and exit.",
"fa_icon": "fas fa-question-circle",
"hidden": true
},
"publish_dir_mode": {
"type": "string",
"default": "copy",
"description": "Method used to save pipeline results to output directory.",
"help_text": "The Nextflow `publishDir` option specifies which intermediate files should be saved to the output directory. This option tells the pipeline what method should be used to move these files. See [Nextflow docs](https://www.nextflow.io/docs/latest/process.html#publishdir) for details.",
"fa_icon": "fas fa-copy",
"enum": ["symlink", "rellink", "link", "copy", "copyNoFollow", "move"],
"hidden": true
},
"email_on_fail": {
"type": "string",
"description": "Email address for completion summary, only when pipeline fails.",
"fa_icon": "fas fa-exclamation-triangle",
"pattern": "^([a-zA-Z0-9_\\-\\.]+)@([a-zA-Z0-9_\\-\\.]+)\\.([a-zA-Z]{2,5})$",
"help_text": "An email address to send a summary email to when the pipeline is completed - ONLY sent if the pipeline does not exit successfully.",
"hidden": true
},
"plaintext_email": {
"type": "boolean",
"description": "Send plain-text email instead of HTML.",
"fa_icon": "fas fa-remove-format",
"hidden": true
},
"max_multiqc_email_size": {
"type": "string",
"description": "File size limit when attaching MultiQC reports to summary emails.",
"pattern": "^\\d+(\\.\\d+)?\\.?\\s*(K|M|G|T)?B$",
"default": "25.MB",
"fa_icon": "fas fa-file-upload",
"hidden": true
},
"monochrome_logs": {
"type": "boolean",
"description": "Do not use coloured log outputs.",
"fa_icon": "fas fa-palette",
"hidden": true
},
"hook_url": {
"type": "string",
"description": "Incoming hook URL for messaging service",
"fa_icon": "fas fa-people-group",
"help_text": "Incoming hook URL for messaging service. Currently, MS Teams and Slack are supported.",
"hidden": true
},
"multiqc_config": {
"type": "string",
"format": "file-path",
"description": "Custom config file to supply to MultiQC.",
"fa_icon": "fas fa-cog",
"hidden": true
},
"multiqc_logo": {
"type": "string",
"description": "Custom logo file to supply to MultiQC. File name must also be set in the MultiQC config file",
"fa_icon": "fas fa-image",
"hidden": true
},
"multiqc_methods_description": {
"type": "string",
"description": "Custom MultiQC yaml file containing HTML including a methods description.",
"fa_icon": "fas fa-cog"
},
"validate_params": {
"type": "boolean",
"description": "Boolean whether to validate parameters against the schema at runtime",
"default": true,
"fa_icon": "fas fa-check-square",
"hidden": true
},
"pipelines_testdata_base_path": {
"type": "string",
"fa_icon": "far fa-check-circle",
"description": "Base URL or local path to location of pipeline test dataset files",
"default": "https://raw.githubusercontent.com/nf-core/test-datasets/",
"hidden": true
},
"trace_report_suffix": {
"type": "string",
"fa_icon": "far calendar",
"description": "Suffix to add to the trace report filename. Default is the date and time in the format yyyy-MM-dd_HH-mm-ss.",
"hidden": true
},
"help": {
"type": ["boolean", "string"],
"description": "Display the help message."
},
"help_full": {
"type": "boolean",
"description": "Display the full detailed help message."
},
"show_hidden": {
"type": "boolean",
"description": "Display hidden parameters in the help message (only works when --help or --help_full are provided)."
}
}
}
},
"allOf": [
{
"$ref": "#/$defs/input_output_options"
},
{
"$ref": "#/$defs/public_data_options"
},
{
"$ref": "#/$defs/idmapping_options"
},
{
"$ref": "#/$defs/sample_filtering_options"
},
{
"$ref": "#/$defs/statistical_options"
},
{
"$ref": "#/$defs/stability_scoring_options"
},
{
"$ref": "#/$defs/scalability_options"
},
{
"$ref": "#/$defs/institutional_config_options"
},
{
"$ref": "#/$defs/generic_options"
}
]
}