diff --git a/README.md b/README.md index 36b0ef483554b9e95058c58f92b17aa3a863665a..a0d38a32e51ffc9ad59726cd95ae8da0dd5a3d4b 100644 --- a/README.md +++ b/README.md @@ -297,3 +297,4 @@ Everything + diff --git a/nextflow.config b/nextflow.config index 23005ceb34fd0263e13f2e5914b5712415bbbbf3..3ad06fcf9a705596bb925b0d6496061b02aeda70 100644 --- a/nextflow.config +++ b/nextflow.config @@ -3,7 +3,7 @@ ## ## ## slivar_vcf_extraction.config ## ## ## -## Gael A. Millot ## +## gmillot A. Millot ## ## Bioinformatics and Biostatistics Hub ## ## Computational Biology Department ## ## Institut Pasteur Paris ## @@ -16,17 +16,17 @@ // variables exported to the main.nf environment. See https://www.nextflow.io/docs/latest/config.html#scope-env env { - sample_path = "/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.gatk-vqsr.splitted.norm.vep.merged_first_10.vcf" // path of the sample file. Example : sample_path="/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.gatk-vqsr.splitted.norm.vep.merged_first_10000.vcf.gz" sample_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/WGS/Dyslexia/vcf/Dyslexia.gatk-vqsr.splitted.norm.vep.merged.vcf.gz". The .tbi file seems not required when calling a .gz file + sample_path = "/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.gatk-vqsr.splitted.norm.vep.merged_first_10.vcf" // path of the sample file. Example : sample_path="/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.gatk-vqsr.splitted.norm.vep.merged_first_10000.vcf.gz" sample_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/WGS/Dyslexia/vcf/Dyslexia.gatk-vqsr.splitted.norm.vep.merged.vcf.gz". The .tbi file seems not required when calling a .gz file //Warning: do not write the out_path now. See below. If written here, the one below is not considered" - fun_path = "/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/bin/slivar-functions.js" // .js file containing functions for the slivar --family-expr option. Example : fun_path="/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/bin/slivar-functions.js", fun_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/bin/slivar-functions.js" - ped_path = "/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.pedigree.txt" // path of the pedigree file. Example : ped_path="/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.pedigree.txt", ped_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/dataset/Dyslexia.pedigree.txt" // pedigree + fun_path = "/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/bin/slivar-functions.js" // .js file containing functions for the slivar --family-expr option. Example : fun_path="/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/bin/slivar-functions.js", fun_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/bin/slivar-functions.js" + ped_path = "/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.pedigree.txt" // path of the pedigree file. Example : ped_path="/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/Dyslexia.pedigree.txt", ped_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/dataset/Dyslexia.pedigree.txt" // pedigree // Reminder. The command of slivar used are: // slivar expr --js ${fun} -g ${annot1} -g ${annot2} --vcf ${vcf} --ped ${ped} --pass-only --family-expr "${pedigree_expr}" -o "res.vcf" // slivar tsv --ped ${ped} -s aff_only -i ${info} res.vcf > res.tsv - annot1_path = "/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/cadd-1.6-SNVs-phred10-GRCh37.zip" // path of the cadd annotation file. Example : annot1_path="/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/cadd-1.6-SNVs-phred10-GRCh37.zip", annot1_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/references/GRCh37/slivar-gnotate/cadd-1.6-SNVs-phred10-GRCh37.zip" // cadd annotation - annot2_path = "/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/gnomad-2.1.1-genome-GRCh37.zip" // path of gnomad annotation file. Example : annot2_path="/mnt/c/Users/Gael/Documents/Git_projects/slivar_vcf_extraction/dataset/gnomad-2.1.1-genome-GRCh37.zip", annot2_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/references/GRCh37/slivar-gnotate/gnomad-2.1.1-genome-GRCh37.zip" // gnomad annotation + annot1_path = "/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/cadd-1.6-SNVs-phred10-GRCh37.zip" // path of the cadd annotation file. Example : annot1_path="/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/cadd-1.6-SNVs-phred10-GRCh37.zip", annot1_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/references/GRCh37/slivar-gnotate/cadd-1.6-SNVs-phred10-GRCh37.zip" // cadd annotation + annot2_path = "/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/gnomad-2.1.1-genome-GRCh37.zip" // path of gnomad annotation file. Example : annot2_path="/mnt/c/Users/gmillot/Documents/Git_projects/slivar_vcf_extraction/dataset/gnomad-2.1.1-genome-GRCh37.zip", annot2_path="/pasteur/zeus/projets/p02/ghfc_wgs_zeus/references/GRCh37/slivar-gnotate/gnomad-2.1.1-genome-GRCh37.zip" // gnomad annotation sample_expr = "--sample-expr 'all:true'" // expression to use for the --sample-expr option of slivar. Example: sample_expr = "--sample-expr 'high_quality:sample.GQ >= 10'". Before the colon is the name of the new field added in the INFO field of the VCF. Write " " if no selection wanted (only annotation). Write "--sample-expr 'all:true'" if no filter wanted but tsv wanted. Warning: all:sample.DP >= 0 is not equivalent to all:true. Of note, "--sample-expr 'all:sample.GQ == \".\"'" is correctly written in the .command.sh file in the work dir of nextflow, but does not seem to work in selecting the empty GQ pedigree_expr = " " // expression to use for the --family-expr or --trio or --group-expr option of slivar in order to filter the data according to pedigree info or VCF info (depends on the .js file defined by fun_path above). See https://github.com/brentp/slivar#commands for details. Example: "--family-expr 'aff_only:fam.every(find_het_aff_hom_ref_unaff)'". Write " " if no selection wanted (only annotation). Of note, for no filtering, pedigree_expr="all:fam.every(function(s){return s.affected || s.unaffected})" does not work, we have to use --sample-expr filter = "false" // if false, the output VCF is only labeled in the VCF INFO field according to the pedigree_expr parameter. If true, take only the labeled lines (variants) of the output VCF. Of note, true add the --pass-only argument to the slivar expr @@ -44,7 +44,7 @@ env { //// must be also exported system_exec = 'local' // the system that runs the workflow. Either 'local' or 'slurm' -out_path_ini = "$baseDir/results" // where the report file will be saved. Example report_path = '.' for where the main.nf run is executed or report_path = '/mnt/c/Users/Gael/Desktop'. Another example : out_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/results". Warning: this does not work: out_path="/mnt/share/Users/gael/Desktop" +out_path_ini = "$baseDir/results" // where the report file will be saved. Example report_path = '.' for where the main.nf run is executed or report_path = '/mnt/c/Users/gmillot/Desktop'. Another example : out_path="/pasteur/zeus/projets/p01/BioIT/gmillot/08002_bourgeron/results". Warning: this does not work: out_path="/mnt/share/Users/gael/Desktop" //// end must be also exported //// General variable