usnistgov/defrabb

Genome In A Bottle Development Framework for Assembly Based Benchmarks

Overview

Latest release: None, Last update: 2026-05-07

Share link: https://snakemake.github.io/snakemake-workflow-catalog?wf=usnistgov/defrabb

Quality control: linting: failed formatting: passed

Wrappers: bio/assembly-stats bio/bcftools/index bio/bcftools/sort bio/bedtools/intersect bio/bedtools/sort bio/bwa/index bio/samtools/faidx bio/samtools/index

Deployment

Step 1: Install Snakemake and Snakedeploy

Snakemake and Snakedeploy are best installed via the Conda package manager. It is recommended to install conda via Miniforge. Run

conda create -c conda-forge -c bioconda -c nodefaults --name snakemake snakemake snakedeploy

to install both Snakemake and Snakedeploy in an isolated environment. For all following commands ensure that this environment is activated via

conda activate snakemake

For other installation methods, refer to the Snakemake and Snakedeploy documentation.

Step 2: Deploy workflow

With Snakemake and Snakedeploy installed, the workflow can be deployed as follows. First, create an appropriate project working directory on your system and enter it:

mkdir -p path/to/project-workdir
cd path/to/project-workdir

In all following steps, we will assume that you are inside of that directory. Then run

snakedeploy deploy-workflow https://github.com/usnistgov/defrabb . --tag None

Snakedeploy will create two folders, workflow and config. The former contains the deployment of the chosen workflow as a Snakemake module, the latter contains configuration files which will be modified in the next step in order to configure the workflow to your needs.

Step 3: Configure workflow

To configure the workflow, adapt config/config.yml to your needs following the instructions below.

Step 4: Run workflow

The deployment method is controlled using the --software-deployment-method (short --sdm) argument.

To run the workflow with automatic deployment of all required software via conda/mamba, use

snakemake --cores all --sdm conda

Snakemake will automatically detect the main Snakefile in the workflow subfolder and execute the workflow module that has been defined by the deployment in step 2.

For further options such as cluster and cloud execution, see the docs.

Step 5: Generate report

After finalizing your data analysis, you can automatically generate an interactive visual HTML report for inspection of results together with parameters and code inside of the browser using

snakemake --report report.zip

Configuration

The following section is imported from the workflow’s config/README.md.

Configuration options

defrabb uses two configuration files

See schema/analyses-schema.yml and schema/resources-schema.yml for detailed descriptions and field formats requirements.

resource.yaml

used to define:

  • parameters, threads, and memory for compute intensive steps

  • urls for remote files: diploid assemblies, genome reference files, stratifications, and callsets used to evaluate draft benchmark

  • exclusion sets and how they are applied

Analyses Tables

Provides run specific configurations

  • input diploid assembly

  • version of reference genome

  • assembly-based variant caller and parameters

  • vcf and bed processing including what exclusions to use

  • benchmarking method and comparison callset used for initial evaluation

Linting and formatting

Linting results
 1/tmp/tmpl4twzg3q/rules/bench_vcf_normalize.smk:76: SyntaxWarning: invalid escape sequence '\.'
 2  shell:
 3/tmp/tmpl4twzg3q/rules/bench_vcf_normalize.smk:89: SyntaxWarning: invalid escape sequence '\.'
 4  vcf="results/asm_varcalls/{vc_id}/annotations/{prefix}.vcf.gz",
 5Lints for rule run_pav (line 91, /tmp/tmpl4twzg3q/rules/asm-varcall.smk):
 6    * No log directive defined:
 7      Without a log directive, all output will be printed to the terminal. In
 8      distributed environments, this means that errors are harder to discover.
 9      In local environments, output of concurrent jobs will be mixed and become
10      unreadable.
11      Also see:
12      https://snakemake.readthedocs.io/en/stable/snakefiles/rules.html#log-files
13
14Lints for rule standardize_vcasm_output (line 140, /tmp/tmpl4twzg3q/rules/asm-varcall.smk):
15    * No log directive defined:
16      Without a log directive, all output will be printed to the terminal. In
17      distributed environments, this means that errors are harder to discover.
18      In local environments, output of concurrent jobs will be mixed and become
19      unreadable.
20      Also see:
21      https://snakemake.readthedocs.io/en/stable/snakefiles/rules.html#log-files
22    * Specify a conda environment or container for each rule.:
23      This way, the used software for each specific step is documented, and the
24      workflow can be executed on any machine without prerequisites.
25      Also see:
26      https://snakemake.readthedocs.io/en/latest/snakefiles/deployment.html#integrated-package-management
27      https://snakemake.readthedocs.io/en/latest/snakefiles/deployment.html#running-jobs-in-containers
28
29Lints for rule write_report_params (line 96, /tmp/tmpl4twzg3q/rules/report.smk):
30    * Migrate long run directives into scripts or notebooks:
31      Long run directives hamper workflow readability. Use the script or
32      notebook directive instead. Note that the script or notebook directive
33      does not involve boilerplate. Similar to run, you will have direct access
34      to params, input, output, and wildcards.Only use the run directive for a
35      handful of lines.
36      Also see:
37      https://snakemake.readthedocs.io/en/latest/snakefiles/rules.html#external-scripts
38      https://snakemake.readthedocs.io/en/latest/snakefiles/rules.html#jupyter-notebook-integration
39
40Lints for rule install_dfam_hmm (line 93, /tmp/tmpl4twzg3q/rules/bench_vcf_anno.smk):
41    * No log directive defined:
42      Without a log directive, all output will be printed to the terminal. In
43      distributed environments, this means that errors are harder to discover.
44      In local environments, output of concurrent jobs will be mixed and become
45      unreadable.
46      Also see:
47      https://snakemake.readthedocs.io/en/stable/snakefiles/rules.html#log-files
Formatting results
All tests passed!