NiourK is a NGS clinical workflow.
The typical command for running the pipeline is as follows:
nextflow run niourk.nf --pathBam bamfolder --pathOut results --genome GRCh37 [arguments]
Mandatory arguments:
--path_bam Path to input BAMs folder
--path_out Path to results folder
--genome Reference Genome (GRCh37, GRCh38, rCRS, ...)
--mito Mitochondrial mode (true|false)
Sequencing arguments:
--wgs Whole Genome Mode
--path_bed Path to target BED file
--path_genes Path to genes list file (one gene per line)
--platform Sequencing platform (iontorrent|illumina)
Tools arguments:
--path_elprep Path to elPrep executable
--path_elprep_files Path to elPrep required files (elsites)
--path_gatk Path to Genome Analysis Toolkit (GATK) executable
--path_tvc Path to Torrent Variant Caller (TVC) executable
--path_strelka Path to Strelka executable
--path_samtools Path to samtools executable
--path_mosdepth Path to mosdepth executable
--path_vt Path to vt executable
--path_vep Path to VEP source directory
--path_vep_cache Path to VEP cache directory
--path_vep_plugin_files Path to VEP plugins files
--path_vcfanno Path to VcfAnno executable
--path_vcfvalidator Path to EBIvariation vcf-validator
--version_deepvariant Version tag for deepvariant docker container
Depth arguments:
--padding Padding size to consider
Calling arguments:
--min_baseq Minimum base quality to consider a call
--min_mapq Minimum mapping quality to consider a call
--min_cov Minimum coverage to consider a call
--min_af Minimum variant allele frequency
--max_sb Maximum variant strand-bias
--min_varcov Mininimum variant coverage
--min_varscore Minimum variant score
Other options:
--help Print help
--monochrome Disable ansi colors