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Config

The VIP configuration is stored in Nextflow configuration files. An additional configuration file can be supplied on the command-line to overwrite default parameter values, add/update profiles, configure processes and update environment variables.

Parameters

key default description
GRCh37.reference.fasta installed human_g1k_v37
GRCh37.reference.fastaFai installed
GRCh37.reference.fastaGzi installed
GRCh38.reference.fasta installed GCA_000001405.15_GRCh38_no_alt_analysis_set
GRCh38.reference.fastaFai installed
GRCh38.reference.fastaGzi installed

Warning: Please take note of the fact that for a different reference fasta.gz the unzipped referenfasta file is also required. Both the zipped and unzipped fasta should have an index.

FASTQ

key default description
GRCh37.reference.fastaMmi installed for details, see here
GRCh38.reference.fastaMmi installed for details, see here

CRAM

key default description
cram.clair3.illumina.model_name ilmn for details, see here
cram.clair3.nanopore.model_name r941_prom_sup_g5014 for details, see here
cram.clair3.pacbio_hifi.model_name hifi for details, see here
cram.sniffles2.GRCh37.tandem_repeat_annotations installed for details, see here
cram.sniffles2.GRCh38.tandem_repeat_annotations installed for details, see here

VCF

key default description
vcf.gvcf_merge_preset gatk_unfiltered allowed values: [gatk, gatk_unfiltered, deepvariant]
vcf.start allowed values: [normalize, annotate, classify, filter, inheritance, classify_samples, filter_samples]. for reanalysis this defines from which step to start the workflow
vcf.annotate.annotsv_cache_dir installed
vcf.annotate.vep_buffer_size 1000 for details, see here
vcf.annotate.vep_cache_dir installed
vcf.annotate.vep_plugin_dir installed
vcf.annotate.vep_plugin_hpo installed
vcf.annotate.vep_plugin_inheritance installed
vcf.annotate.vep_plugin_vkgl_mode 1 allowed values: [0=full VKGL, 1=public VKGL]. update vcf.annotate.GRCh38.vep_plugin_vkgl accordingly
vcf.annotate.GRCh37.capice_model installed
vcf.annotate.GRCh37.vep_custom_gnomad installed
vcf.annotate.GRCh37.vep_custom_clinvar installed
vcf.annotate.GRCh37.vep_custom_phylop installed
vcf.annotate.GRCh37.vep_plugin_spliceai_indel installed
vcf.annotate.GRCh37.vep_plugin_spliceai_snv installed
vcf.annotate.GRCh37.vep_plugin_utrannotator installed
vcf.annotate.GRCh37.vep_plugin_vkgl installed
vcf.annotate.GRCh38.capice_model installed
vcf.annotate.GRCh38.vep_custom_gnomad installed
vcf.annotate.GRCh38.vep_custom_clinvar installed
vcf.annotate.GRCh38.vep_custom_phylop installed
vcf.annotate.GRCh38.vep_plugin_spliceai_indel installed
vcf.annotate.GRCh38.vep_plugin_spliceai_snv installed
vcf.annotate.GRCh38.vep_plugin_utrannotator installed
vcf.annotate.GRCh38.vep_plugin_vkgl installed update vcf.annotate.vep_plugin_vkgl_mode accordingly
vcf.classify.annotate_labels 0 allowed values: [0=false, 1=true]. annotate variant-consequences with classification tree labels
vcf.classify.annotate_path 1 allowed values: [0=false, 1=true]. annotate variant-consequences with classification tree path
vcf.classify.GRCh37.decision_tree installed for details, see here
vcf.classify.GRCh38.decision_tree installed for details, see here
vcf.classify_samples.annotate_labels 0 allowed values: [0=false, 1=true]. annotate variant-consequences per sample with classification tree labels
vcf.classify_samples.annotate_path 1 allowed values: [0=false, 1=true]. annotate variant-consequences per sample with classification tree path
vcf.classify_samples.GRCh37.decision_tree installed for details, see here
vcf.classify_samples.GRCh38.decision_tree installed for details, see here
vcf.filter.classes VUS,LP,P for details, see here
vcf.filter.consequences true allowed values: [true, false]
vcf.filter_samples.classes MV,OK for details, see here
vcf.report.max_records
vcf.report.max_samples
vcf.report.template for details, see here
vcf.report.GRCh37.genes installed
vcf.report.GRCh38.genes installed

Profiles

VIP pre-defines two profiles. The default profile is Slurm with fallback to local in case Slurm cannot be discovered.

key description
local for details, see here
slurm for details, see here

Additional profiles (for details, see here) can be added to your configuration file and used on the command-line, for example to run VIP on the Amazon, Azure or Google Cloud.

Process

By default, each process gets assigned 4 cpus, 8GB of memory and a max runtime of 4 hours. Depending on your system specifications and your analysis you might need to use updated values. For information on how to update process configuration see the Nextflow documentation. The following sections list all processes and their non-default configuration.

FASTQ

process configuration
concat_fastq default
concat_fastq_paired_end default
minimap2_align cpus=8 memory='16GB' time='23h'
minimap2_align_paired_end cpus=8 memory='16GB' time='23h'
minimap2_index cpus=8 memory='16GB' time='23h'

CRAM

process configuration
samtools_addreplacerg default
clair3_call cpus=4 memory='8GB' time='5h'
clair3_call_publish default
manta_call cpus=4 memory='8GB' time='5h'
manta_call_publish default
samtools_index default
sniffles2_call cpus=4 memory='8GB' time='5h'
sniffles2_combined_call cpus=4 memory='8GB' time='5h'
sniffles2_call_publish default

VCF

process configuration
annotate cpus=4 memory='8GB' time='4h'
annotate_publish default
classify memory = '2GB'
classify_publish default
classify_samples memory = '2GB'
classify_samples_publish default
concat default
convert default
filter default
filter_samples default
index memory='100MB' time='30m'
inheritance memory = '2GB'
merge_gvcf memory='2GB' time='30m'
merge_vcf default
normalize default
report memory = '4GB'
slice default
split memory='100MB' time='30m'
stats default

Environment

See https://github.com/molgenis/vip/tree/main/config for an overview of available environment variables. Notably this allows to use different Apptainer containers for the tools that VIP relies on.