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Merge 6312906 into 0f97d7e
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jemten committed Sep 23, 2021
2 parents 0f97d7e + 6312906 commit 893b13b
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Showing 39 changed files with 76 additions and 69 deletions.
1 change: 1 addition & 0 deletions CHANGELOG.md
Expand Up @@ -28,6 +28,7 @@ vep release_103.1 -> release_104.3

- gnomad: r3.0 -> r3.1.1
- [NEW] gnomad mt: r3.1
- clinvar: 20210415 -> 20210919

## [10.2.1]

Expand Down
8 changes: 4 additions & 4 deletions t/check_vep_api_cache_versions.t
Expand Up @@ -54,13 +54,13 @@ my $test_dir = File::Temp->newdir();
test_log( {} );

## Given matching vep API and cache version
my $vep_directory_cache = catdir( $Bin, qw{ data references ensembl-tools-data-103 cache } );
my $vep_directory_cache = catdir( $Bin, qw{ data references ensembl-tools-data-104 cache } );

my %process_return = (
buffers_ref => [],
error_message => undef,
stderrs_ref => [],
stdouts_ref => [qw{ 103 }],
stdouts_ref => [qw{ 104 }],
success => 1,
);
test_constants(
Expand All @@ -70,7 +70,7 @@ test_constants(
);
my $base_command = q{vep};
my $container_base_command =
q{singularity exec docker//docker.io/ensemblorg/ensembl-vep:release_103.1 vep};
q{singularity exec docker//docker.io/ensemblorg/ensembl-vep:release_104.3 vep};
my %container_cmd = ( $base_command => $container_base_command, );
set_container_cmd( { container_cmd_href => \%container_cmd, } );

Expand All @@ -85,7 +85,7 @@ my $match = check_vep_api_cache_versions(
ok( $match, q{Return on matching versions} );

## Given non matching API and cache
$vep_directory_cache = catdir( $Bin, qw{ data references ensembl-tools-data-103 cache2 } );
$vep_directory_cache = catdir( $Bin, qw{ data references ensembl-tools-data-104 cache2 } );

## When comparing API and cache version
trap {
Expand Down
Empty file.
Empty file.
14 changes: 7 additions & 7 deletions templates/grch38_mip_rd_dna_config.yaml
Expand Up @@ -94,10 +94,10 @@ vep_custom_annotation:
force_report_coordinates: 0
key: CLINVAR
file_type: vcf
path: cluster_constant_path!/references/grch38_clinvar_reformated_-20210415-.vcf.gz
path: cluster_constant_path!/references/grch38_clinvar_reformated_-20210919-.vcf.gz
vcf_fields: CLNSIG,CLNVID,CLNREVSTAT
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-103/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-104/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins
vep_plugin:
dbNSFP:
exist_check:
Expand All @@ -119,15 +119,15 @@ vep_plugin:
LoFtool:
exists_check:
- type: file
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
MaxEntScan:
exist_check:
- type: directory
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
- SWA
- NCSS
SpliceAI:
Expand Down
2 changes: 1 addition & 1 deletion templates/grch38_mip_rd_rna_config.yaml
Expand Up @@ -41,4 +41,4 @@ fusion_cytoband_path: /arriba_v2.1.0/database/cytobands_hg38_GRCh38_v2.1.0.tsv
fusion_protein_domain_path: /arriba_v2.1.0/database/protein_domains_hg38_GRCh38_v2.1.0.gff3
picardtools_path: /usr/picard
qccollect_sampleinfo_file: cluster_constant_path!/case_id!/analysis_constant_path!/case_id!_qc_sample_info.yaml
vep_directory_cache: cluster_constant_path!/modules/miniconda/envs/MIP_rd_rna/ensembl-tools-103/cache/
vep_directory_cache: cluster_constant_path!/modules/miniconda/envs/MIP_rd_rna/ensembl-tools-104/cache/
36 changes: 18 additions & 18 deletions templates/mip_download_rd_dna_config_-1.0-.yaml
Expand Up @@ -26,8 +26,8 @@ reference:
chromograph_cytoband:
- v1.0
clinvar:
- 20200905
- 20210415
- 20210919
dbnsfp:
- 3.5a
- 4.0b2a
Expand Down Expand Up @@ -122,8 +122,8 @@ reference:
- 1.0
vcfanno_config:
- v0.2
- v1.15
- v1.16
- v1.17
vcfanno_functions:
- v1.0
reference_feature:
Expand Down Expand Up @@ -314,15 +314,6 @@ reference_feature:
url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/region/
clinvar:
grch37:
20200905:
file: clinvar_20200905.vcf.gz
file_check: clinvar_20200905.vcf.gz.md5
file_index: clinvar_20200905.vcf.gz.tbi
outfile: grch37_clinvar_-20200905-.vcf.gz
outfile_check: grch37_clinvar_-20200905-.vcf.gz.md5
outfile_index: grch37_clinvar_-20200905-.vcf.gz.tbi
outfile_check_method: md5sum
url_prefix: ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/archive_2.0/2020/
20210415:
file: clinvar_20210415.vcf.gz
file_check: clinvar_20210415.vcf.gz.md5
Expand All @@ -332,6 +323,15 @@ reference_feature:
outfile_index: grch37_clinvar_-20210415-.vcf.gz.tbi
outfile_check_method: md5sum
url_prefix: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/weekly/
20210919:
file: clinvar_20210919.vcf.gz
file_check: clinvar_20210919.vcf.gz.md5
file_index: clinvar_20210919.vcf.gz.tbi
outfile: grch37_clinvar_-20210919-.vcf.gz
outfile_check: grch37_clinvar_-20210919-.vcf.gz.md5
outfile_index: grch37_clinvar_-20210919-.vcf.gz.tbi
outfile_check_method: md5sum
url_prefix: ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/weekly
grch38:
20200905:
file: clinvar_20200905.vcf.gz
Expand Down Expand Up @@ -902,20 +902,20 @@ reference_feature:
url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/region/
vcfanno_config:
grch37:
v1.15:
file: grch37_vcfanno_config_-v1.15-.toml
file_check: grch37_vcfanno_config_-v1.15-.toml.md5
outfile: grch37_vcfanno_config_-v1.15-.toml
outfile_check: grch37_vcfanno_config_-v1.15-.toml.md5
outfile_check_method: md5sum
url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/annotation/
v1.16:
file: grch37_vcfanno_config_-v1.16-.toml
file_check: grch37_vcfanno_config_-v1.16-.toml.md5
outfile: grch37_vcfanno_config_-v1.16-.toml
outfile_check: grch37_vcfanno_config_-v1.16-.toml.md5
outfile_check_method: md5sum
url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/annotation/
v1.17:
file: grch37_vcfanno_config_-v1.17-.toml
file_check: grch37_vcfanno_config_-v1.17-.toml.md5
outfile: grch37_vcfanno_config_-v1.17-.toml
outfile_check: grch37_vcfanno_config_-v1.17-.toml.md5
outfile_check_method: md5sum
url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/annotation/
grch38:
v0.2:
file: grch38_vcfanno_config_-v0.2-.toml
Expand Down
18 changes: 12 additions & 6 deletions templates/mip_download_rd_rna_config_-1.0-.yaml
Expand Up @@ -16,10 +16,11 @@ reference:
- gold_standard_dbsnp
- 146
gencode_annotation:
- v34
- v37
- v38
gencode_transcript:
- v37
- v38
human_reference:
- decoy_5
- assembly38
Expand All @@ -42,16 +43,16 @@ reference_feature:
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_37/GRCh37_mapping/
grch38:
v34:
file: gencode.v34.annotation.gtf.gz
outfile: grch38_gencode_annotation_-v34-.gtf.gz
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_34/
v37:
file: gencode.v37.primary_assembly.annotation.gtf.gz
outfile: grch38_gencode_annotation_-v37-.gtf.gz
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_37/
v38:
file: gencode.v38.primary_assembly.annotation.gtf.gz
outfile: grch38_gencode_annotation_-v38-.gtf.gz
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_38/
gencode_transcript:
grch37:
v37:
Expand All @@ -65,6 +66,11 @@ reference_feature:
outfile: grch38_gencode_transcripts_-v37-.fa.gz
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_37/
v38:
file: gencode.v38.transcripts.fa.gz
outfile: grch38_gencode_transcripts_-v38-.fa.gz
outfile_decompress: gzip
url_prefix: ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_38/
ctat_resource_lib:
grch37:
gencode_v19_ctat_lib_mar012021:
Expand Down
14 changes: 7 additions & 7 deletions templates/mip_dragen_rd_dna_config.yaml
Expand Up @@ -68,10 +68,10 @@ vep_custom_annotation:
force_report_coordinates: 0
key: CLINVAR
file_type: vcf
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210415-.vcf.gz
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210919-.vcf.gz
vcf_fields: CLNSIG,CLNVID,CLNREVSTAT
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-103/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-104/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins
vep_plugin:
dbNSFP:
exist_check:
Expand All @@ -93,15 +93,15 @@ vep_plugin:
LoFtool:
exist_check:
- type: file
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
MaxEntScan:
exist_check:
- type: directory
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
- SWA
- NCSS
SpliceAI:
Expand Down
18 changes: 9 additions & 9 deletions templates/mip_rd_dna_config.yaml
Expand Up @@ -31,15 +31,15 @@ sv_rank_model_file: svrank_model_-v1.8-.ini
sv_svdb_query_db_files:
# FORMAT: filename|OUT_FREQUENCY_INFO_KEY|OUT_ALLELE_COUNT_INFO_KEY|IN_FREQUENCY_INFO_KEY|IN_ALLELE_COUNT_INFO_KEY|USE_IN_FREQUENCY_FILTER
grch37_gnomad_reformated_-r2.1.1_sv-.vcf.gz: gnomad_sv|AF|AC|AF|AC|1
grch37_loqusdb_sv_variants_export-20210416-.vcf: clinical_genomics_loqus|Frq|Obs|Frq|Obs
grch37_loqusdb_sv_variants_export-20210921-.vcf: clinical_genomics_loqus|Frq|Obs|Frq|Obs|1
grch37_mip_sv_svdb_export_-2018-10-09-.vcf: clinical_genomics_mip|AF|OCC|FRQ|OCC|1
grch37_svdb_query_decipher_-v1.0.0-.vcf: decipher|AF|OCC|FRQ|OCC
grch37_svdb_query_clingen_cgh_benign_-v1.0.0-.vcf: clingen_cgh_benign
grch37_svdb_query_clingen_cgh_pathogenic_-v1.0.0-.vcf: clingen_cgh_pathogenic
grch37_svdb_query_clingen_ngi_-v1.0.0-.vcf: clingen_ngi|AF|OCC|FRQ|OCC|1
grch37_swegen_concat_sort_-20170830-.vcf: swegen|AF|OCC|FRQ|OCC|1
vcf2cytosure_blacklist: grch37_cytosure_blacklist_-1.0-.bed
vcfanno_config: grch37_vcfanno_config_-v1.16-.toml
vcfanno_config: grch37_vcfanno_config_-v1.17-.toml
### Analysis
### Programs
## Parameters
Expand Down Expand Up @@ -75,10 +75,10 @@ vep_custom_annotation:
force_report_coordinates: 0
key: CLINVAR
file_type: vcf
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210415-.vcf.gz
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210919-.vcf.gz
vcf_fields: CLNSIG,CLNVID,CLNREVSTAT
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-103/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-104/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins
vep_plugin:
dbNSFP:
exist_check:
Expand All @@ -100,15 +100,15 @@ vep_plugin:
LoFtool:
exist_check:
- type: file
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
MaxEntScan:
exist_check:
- type: directory
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
- SWA
- NCSS
SpliceAI:
Expand Down
14 changes: 7 additions & 7 deletions templates/mip_rd_dna_panel_config.yaml
Expand Up @@ -49,10 +49,10 @@ vep_custom_annotation:
force_report_coordinates: 0
key: CLINVAR
file_type: vcf
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210415-.vcf.gz
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210919-.vcf.gz
vcf_fields: CLNSIG,CLNVID,CLNREVSTAT
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-103/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-104/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins
vep_plugin:
dbNSFP:
exist_check:
Expand All @@ -74,15 +74,15 @@ vep_plugin:
LoFtool:
exist_check:
- type: file
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
MaxEntScan:
exist_check:
- type: directory
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
- SWA
- NCSS
SpliceAI:
Expand Down
18 changes: 9 additions & 9 deletions templates/mip_rd_dna_vcf_rerun_config.yaml
Expand Up @@ -28,15 +28,15 @@ sv_rank_model_file: svrank_model_-v1.8-.ini
# FORMAT: filename|OUT_FREQUENCY_INFO_KEY|OUT_ALLELE_COUNT_INFO_KEY|IN_FREQUENCY_INFO_KEY|IN_ALLELE_COUNT_INFO_KEY|USE_IN_FREQUENCY_FILTER
sv_svdb_query_db_files:
grch37_gnomad_reformated_-r2.1.1_sv-.vcf.gz: gnomad_sv|AF|AC|AF|AC|1
grch37_loqusdb_sv_variants_export-20210416-.vcf: clinical_genomics_loqus|Frq|Obs|Frq|Obs
grch37_loqusdb_sv_variants_export-20210921-.vcf: clinical_genomics_loqus|Frq|Obs|Frq|Obs
grch37_mip_sv_svdb_export_-2018-10-09-.vcf: clinical_genomics_mip|AF|OCC|FRQ|OCC|1
grch37_svdb_query_decipher_-v1.0.0-.vcf: decipher|AF|OCC|FRQ|OCC
grch37_svdb_query_clingen_cgh_benign_-v1.0.0-.vcf: clingen_cgh_benign
grch37_svdb_query_clingen_cgh_pathogenic_-v1.0.0-.vcf: clingen_cgh_pathogenic
grch37_svdb_query_clingen_ngi_-v1.0.0-.vcf: clingen_ngi|AF|OCC|FRQ|OCC|1
grch37_swegen_concat_sort_-20170830-.vcf: swegen|AF|OCC|FRQ|OCC|1
sv_vcfanno_config: grch37_sv_vcfanno_config_-v1.4-.toml
vcfanno_config: grch37_vcfanno_config_-v1.16-.toml
vcfanno_config: grch37_vcfanno_config_-v1.17-.toml
### Analysis
## Programs
## Parameters
Expand Down Expand Up @@ -70,10 +70,10 @@ vep_custom_annotation:
force_report_coordinates: 0
key: CLINVAR
file_type: vcf
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210415-.vcf.gz
path: cluster_constant_path!/references/grch37_clinvar_reformated_-20210919-.vcf.gz
vcf_fields: CLNSIG,CLNVID,CLNREVSTAT
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-103/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins
vep_directory_cache: cluster_constant_path!/references/ensembl-tools-data-104/cache/
vep_plugins_dir_path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins
vep_plugin:
dbNSFP:
exist_check:
Expand All @@ -95,15 +95,15 @@ vep_plugin:
LoFtool:
exist_check:
- type: file
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/LoFtool_scores.txt
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/LoFtool_scores.txt
MaxEntScan:
exist_check:
- type: directory
path: cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
path: cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
parameters:
- cluster_constant_path!/references/ensembl-tools-data-103/cache/Plugins/fordownload
- cluster_constant_path!/references/ensembl-tools-data-104/cache/Plugins/fordownload
- SWA
- NCSS
SpliceAI:
Expand Down
2 changes: 1 addition & 1 deletion templates/mip_rd_rna_config.yaml
Expand Up @@ -33,4 +33,4 @@ fusion_cytoband_path: /arriba_v2.1.0/database/cytobands_hg19_hs37d5_GRCh37_v2.1.
fusion_protein_domain_path: /arriba_v2.1.0/database/protein_domains_hg19_hs37d5_GRCh37_v2.1.0.gff3
picardtools_path: /usr/picard
qccollect_sampleinfo_file: cluster_constant_path!/case_id!/analysis_constant_path!/case_id!_qc_sample_info.yaml
vep_directory_cache: cluster_constant_path!/modules/miniconda/envs/MIP_rd_rna/ensembl-tools-103/cache/
vep_directory_cache: cluster_constant_path!/modules/miniconda/envs/MIP_rd_rna/ensembl-tools-104/cache/

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