diff --git a/docs/Setup_variant_prioritization.md b/docs/Setup_variant_prioritization.md index 5323e94d79fcf56cfa721fb9c15a1ba2b2e88e54..2c282b084014f5603fa6be34bc892704dcdca23b 100644 --- a/docs/Setup_variant_prioritization.md +++ b/docs/Setup_variant_prioritization.md @@ -21,7 +21,7 @@ Note: make sure the VEP cache files are tabix converted (significant speedup) ### Check the downloaded VEP cache files were tabix converted ``` -U> ls -l /home/u035/project/software/bcbio/genomes/Hsapiens/hg38/vep/homo_sapiens_merged/100_GRCh38/<chr> +U> ls -l /home/u035/u035/shared/software/bcbio/genomes/Hsapiens/hg38/vep/homo_sapiens_merged/100_GRCh38/<chr> ``` where <chr> is the chromosome name without the ‘chr’ prefix (e.g., 1,2, ..., 22). @@ -67,7 +67,7 @@ U> wget ftp://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh38/variation_genot U> wget ftp://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh38/variation_genotype/gnomad/r2.1/exomes/*.tbi ``` -Edit the `/home/u035/project/software/bcbio/anaconda/share/ensembl-vep-100.4-0/Bio/EnsEMBL/Variation/DBSQL/vcf_config.json` file to update type (remote -> local) and filename_template (local path to datasets) variables for these local datasets. +Edit the `/home/u035/u035/shared/software/bcbio/anaconda/share/ensembl-vep-100.4-0/Bio/EnsEMBL/Variation/DBSQL/vcf_config.json` file to update type (remote -> local) and filename_template (local path to datasets) variables for these local datasets. gnomADg (lines 138-143) ``` @@ -76,7 +76,7 @@ gnomADg (lines 138-143) "species": "homo_sapiens", "assembly": "GRCh38", "type": "local", -"filename_template": "/home/u035/project/resources/gnomad/r3.0/genomes/gnomad.genomes.r3.0.sites.chr###CHR###_trimmed_info.vcf.bgz" +"filename_template": "/home/u035/u035/shared/resources/gnomad/r3.0/genomes/gnomad.genomes.r3.0.sites.chr###CHR###_trimmed_info.vcf.bgz" ``` gnomADe (lines 199-204) @@ -86,20 +86,20 @@ gnomADe (lines 199-204) "species": "homo_sapiens", "assembly": "GRCh38", "type": "local", -"filename_template": "/home/u035/project/resources/gnomad/r2.1/exomes/gnomad.exomes.r2.1.sites.grch38.chr###CHR###_noVEP.vcf.gz" +"filename_template": "/home/u035/u035/shared/resources/gnomad/r2.1/exomes/gnomad.exomes.r2.1.sites.grch38.chr###CHR###_noVEP.vcf.gz" ``` ## Parameter Values for G2P call Files -* `/home/u035/project/scripts/process_NHS_WES_trio.sh` -* `/home/u035/project/scripts/process_NHS_WES_aff_probands.sh` +* `/home/u035/u035/shared/scripts/process_NHS_WES_trio.sh` +* `/home/u035/u035/shared/scripts/process_NHS_WES_aff_probands.sh` ``` -VEP="/home/u035/project/software/bcbio/anaconda/bin/perl /home/u035/project/software/bcbio/anaconda/bin/vep" +VEP="/home/u035/u035/shared/software/bcbio/anaconda/bin/perl /home/u035/u035/shared/software/bcbio/anaconda/bin/vep" # this points to ../share/ensembl-vep-100.4-0/vep -REFERENCE_GENOME=/home/u035/project/resources/hg38.fa +REFERENCE_GENOME=/home/u035/u035/shared/resources/hg38.fa IN_FILE=${VCF_DIR}/${PLATE_ID}_${FAMILY_ID}.clean.vcf G2P_LOG_DIR=${G2P_DIR}/${PLATE_ID}_${FAMILY_ID}_LOG_DIR @@ -118,11 +118,11 @@ time ${VEP} \ --merged \ --use_given_ref \ --cache --cache_version 100 \ - --dir_cache /home/u035/project/software/bcbio/genomes/Hsapiens/hg38/vep \ + --dir_cache /home/u035/u035/shared/software/bcbio/genomes/Hsapiens/hg38/vep \ --individual all \ - --transcript_filter "gene_symbol in /home/u035/project/resources/genes_in_DDG2P.20201208.txt" \ - --dir_plugins /home/u035/project/software/bcbio/anaconda/share/ensembl-vep-100.4-0 \ - --plugin G2P,file='/home/u035/project/resources/DDG2P.20201208.csv',af_from_vcf=1,confidence_levels='confirmed&probable&both RD and IF',af_from_vcf_keys=${VCF_KEYS},\ + --transcript_filter "gene_symbol in /home/u035/u035/shared/resources/genes_in_DDG2P.20201208.txt" \ + --dir_plugins /home/u035/u035/shared/software/bcbio/anaconda/share/ensembl-vep-100.4-0 \ + --plugin G2P,file='/home/u035/u035/shared/resources/DDG2P.20201208.csv',af_from_vcf=1,confidence_levels='confirmed&probable&both RD and IF',af_from_vcf_keys=${VCF_KEYS},\ log_dir=${G2P_LOG_DIR},txt_report=${TXT_OUT},html_report=${HTML_OUT} ``` @@ -262,7 +262,7 @@ File name: clinvar_20210626.P_LP.ACP.vcf Description of ClinVar VCF @ `https://www.ncbi.nlm.nih.gov/variation/docs/ClinVar_vcf_files/` ``` -U> cd /home/u035/project/resources +U> cd /home/u035/u035/shared/resources U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz.tbi @@ -367,7 +367,7 @@ Location at EPCC: /home/u035/u035/shared/software/bcbio/anaconda/bin/vase Parameter Values for VASE STRICT ``` -VASE=/home/u035/project/software/bin/vase +VASE=/home/u035/u035/shared/software/bin/vase IN_FILE=${VCF_DIR}/${PLATE_ID}_${FAMILY_ID}.ready.vcf.gz OUT_FILE=${VASE_DIR}/${PLATE_ID}_${FAMILY_ID}.strict.denovo.vcf