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Commit 43b11fd0 authored by ameyner2's avatar ameyner2
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Fix project > u035/shared.

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...@@ -21,7 +21,7 @@ Note: make sure the VEP cache files are tabix converted (significant speedup) ...@@ -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 ### 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). 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 ...@@ -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 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) gnomADg (lines 138-143)
``` ```
...@@ -76,7 +76,7 @@ gnomADg (lines 138-143) ...@@ -76,7 +76,7 @@ gnomADg (lines 138-143)
"species": "homo_sapiens", "species": "homo_sapiens",
"assembly": "GRCh38", "assembly": "GRCh38",
"type": "local", "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) gnomADe (lines 199-204)
...@@ -86,20 +86,20 @@ gnomADe (lines 199-204) ...@@ -86,20 +86,20 @@ gnomADe (lines 199-204)
"species": "homo_sapiens", "species": "homo_sapiens",
"assembly": "GRCh38", "assembly": "GRCh38",
"type": "local", "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 ## Parameter Values for G2P call
Files Files
* `/home/u035/project/scripts/process_NHS_WES_trio.sh` * `/home/u035/u035/shared/scripts/process_NHS_WES_trio.sh`
* `/home/u035/project/scripts/process_NHS_WES_aff_probands.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 # 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}_${FAMILY_ID}.clean.vcf IN_FILE=${VCF_DIR}/${PLATE_ID}_${FAMILY_ID}.clean.vcf
G2P_LOG_DIR=${G2P_DIR}/${PLATE_ID}_${FAMILY_ID}_LOG_DIR G2P_LOG_DIR=${G2P_DIR}/${PLATE_ID}_${FAMILY_ID}_LOG_DIR
...@@ -118,11 +118,11 @@ time ${VEP} \ ...@@ -118,11 +118,11 @@ time ${VEP} \
--merged \ --merged \
--use_given_ref \ --use_given_ref \
--cache --cache_version 100 \ --cache --cache_version 100 \
--dir_cache /home/u035/project/software/bcbio/genomes/Hsapiens/hg38/vep \ --dir_cache /home/u035/u035/shared/software/bcbio/genomes/Hsapiens/hg38/vep \
--individual all \ --individual all \
--transcript_filter "gene_symbol in /home/u035/project/resources/genes_in_DDG2P.20201208.txt" \ --transcript_filter "gene_symbol in /home/u035/u035/shared/resources/genes_in_DDG2P.20201208.txt" \
--dir_plugins /home/u035/project/software/bcbio/anaconda/share/ensembl-vep-100.4-0 \ --dir_plugins /home/u035/u035/shared/software/bcbio/anaconda/share/ensembl-vep-100.4-0 \
--plugin G2P,file='/home/u035/project/resources/DDG2P.20201208.csv',af_from_vcf=1,confidence_levels='confirmed&probable&both RD and IF',af_from_vcf_keys=${VCF_KEYS},\ --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} log_dir=${G2P_LOG_DIR},txt_report=${TXT_OUT},html_report=${HTML_OUT}
``` ```
...@@ -262,7 +262,7 @@ File name: clinvar_20210626.P_LP.ACP.vcf ...@@ -262,7 +262,7 @@ File name: clinvar_20210626.P_LP.ACP.vcf
Description of ClinVar VCF @ `https://www.ncbi.nlm.nih.gov/variation/docs/ClinVar_vcf_files/` Description of ClinVar VCF @ `https://www.ncbi.nlm.nih.gov/variation/docs/ClinVar_vcf_files/`
``` ```
U> cd /home/u035/project/resources U> cd /home/u035/u035/shared/resources
U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz
U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz.tbi U> wget ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20210626.vcf.gz.tbi
...@@ -367,7 +367,7 @@ Location at EPCC: /home/u035/u035/shared/software/bcbio/anaconda/bin/vase ...@@ -367,7 +367,7 @@ Location at EPCC: /home/u035/u035/shared/software/bcbio/anaconda/bin/vase
Parameter Values for VASE STRICT Parameter Values for VASE STRICT
``` ```
VASE=/home/u035/project/software/bin/vase VASE=/home/u035/u035/shared/software/bin/vase
IN_FILE=${VCF_DIR}/${PLATE_ID}_${FAMILY_ID}.ready.vcf.gz IN_FILE=${VCF_DIR}/${PLATE_ID}_${FAMILY_ID}.ready.vcf.gz
OUT_FILE=${VASE_DIR}/${PLATE_ID}_${FAMILY_ID}.strict.denovo.vcf OUT_FILE=${VASE_DIR}/${PLATE_ID}_${FAMILY_ID}.strict.denovo.vcf
......
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