diff --git a/download_urls.yml b/download_urls.yml index 0f86ab9..ae1e4b7 100644 --- a/download_urls.yml +++ b/download_urls.yml @@ -92,111 +92,23 @@ - url: https://storage.googleapis.com/gcp-public-data--gnomad/papers/2019-sv/gnomad_v2.1_sv.sites.vcf.gz - url: https://storage.googleapis.com/gcp-public-data--gnomad/papers/2019-sv/gnomad_v2.1_sv.controls_only.sites.vcf.gz - url: https://storage.googleapis.com/gcp-public-data--gnomad/papers/2019-sv/gnomad_v2.1_sv.nonneuro.sites.vcf.gz -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/exome_cnv/gnomad.v4.0.cnv.all.vcf.gz +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/exome_cnv/gnomad.v4.1.cnv.all.vcf.gz excerpt_strategy: strategy: gz-head count: 160 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/exome_cnv/gnomad.v4.0.cnv.non_neuro.vcf.gz +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/exome_cnv/gnomad.v4.1.cnv.non_neuro.vcf.gz excerpt_strategy: strategy: gz-head count: 160 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/exome_cnv/gnomad.v4.0.cnv.non_neuro_controls.vcf.gz +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/exome_cnv/gnomad.v4.1.cnv.non_neuro_controls.vcf.gz excerpt_strategy: strategy: gz-head count: 160 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr1.vcf.gz +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/genome_sv/gnomad.v4.1.sv.sites.vcf.gz excerpt_strategy: strategy: vcf-head count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr2.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr3.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr4.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr5.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr6.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr7.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr8.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr9.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr10.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr11.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr12.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr13.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr14.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr15.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr16.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr17.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr18.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr19.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr20.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr21.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr22.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chrX.vcf.gz - excerpt_strategy: - strategy: vcf-head - count: 1800 -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chrY.vcf.gz +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/genome_sv/gnomad.v4.1.sv.non_neuro_controls.sites.vcf.gz excerpt_strategy: strategy: vcf-head count: 1800 @@ -346,7 +258,7 @@ count: null - url: https://storage.googleapis.com/gcp-public-data--gnomad/release/2.1.1/constraint/gnomad.v2.1.1.lof_metrics.by_gene.txt.bgz -- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/v4.0/constraint/gnomad.v4.0.constraint_metrics.tsv +- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/4.1/constraint/gnomad.v4.1.constraint_metrics.tsv - url: https://ftp.ncbi.nih.gov/gene/DATA/mim2gene_medgen - comment: We replace the linux64.gene2.xml binary with a wrapper to zcat... @@ -392,105 +304,105 @@ - url: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/cnv/exac-final.autosome-1pct-sq60-qc-prot-coding.cnv.bed - url: https://ftp-trace.ncbi.nih.gov/1000genomes/ftp/phase3/integrated_sv_map/ALL.wgs.integrated_sv_map_v2.20130502.svs.genotypes.vcf.gz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr1.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr2.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr3.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr4.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr5.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr6.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr7.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr8.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr9.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr10.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr11.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr12.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr13.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr14.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr15.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr16.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr17.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr18.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr19.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr20.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr21.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr22.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrX.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrY.vcf.bgz - -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr1.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr2.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr3.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr4.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr5.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr6.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr7.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr8.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr9.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr10.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr11.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr12.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr13.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr14.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr15.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr16.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr17.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr18.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr19.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr20.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr21.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr22.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrX.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrY.vcf.bgz.tbi - -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr1.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr2.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr3.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr4.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr5.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr6.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr7.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr8.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr9.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr10.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr11.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr12.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr13.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr14.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr15.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr16.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr17.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr18.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr19.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr20.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr21.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr22.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chrX.vcf.bgz -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chrY.vcf.bgz - -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr1.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr2.vcf.bgz.tbi -- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr3.vcf.bgz.tbi -- url: 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+size 117 diff --git a/rules/output/annonars/gnomad_sv.smk b/rules/output/annonars/gnomad_sv.smk index 0994cea..7f52a9f 100644 --- a/rules/output/annonars/gnomad_sv.smk +++ b/rules/output/annonars/gnomad_sv.smk @@ -88,7 +88,7 @@ rule output_annonars_gnomad_sv_grch37_gnomad_sv2: # -- build gnomAD-SV RocksDB rule output_annonars_gnomad_sv_grch38_gnomad_cnv4: # -- build gnomAD-SV RocksDB with annonars; gnomAD-CNV v4 variant input: vcf=[ - f"work/download/annos/grch38/strucvars/gnomad_cnv/4.0/gnomad.v4.0.cnv.{token}.vcf.gz" + f"work/download/annos/grch38/strucvars/gnomad_cnv/{{v_gnomad}}/gnomad.v{{v_gnomad}}.cnv.{token}.vcf.gz" for token in ("all", "non_neuro", "non_neuro_controls") ], output: @@ -128,10 +128,7 @@ rule output_annonars_gnomad_sv_grch38_gnomad_cnv4: # -- build gnomAD-SV RocksDB rule output_annonars_gnomad_sv_grch38_gnomad_sv4: # -- build gnomAD-SV RocksDB with annonars; gnomAD-SV v4 variant input: - vcf=[ - f"work/download/annos/grch38/strucvars/gnomad_sv/4.0/gnomad.v4.0.sv.chr{chrom}.vcf.gz" - for chrom in list(range(1, 23)) + ["X", "Y"] - ], + vcf="work/download/annos/grch38/strucvars/gnomad_sv/{v_gnomad}/gnomad.v{v_gnomad}.sv.sites.vcf.gz", output: rocksdb_identity=( "output/full/annonars/gnomad-sv-genomes-grch38-{v_gnomad}+{v_annonars}/rocksdb/IDENTITY", @@ -152,7 +149,7 @@ rule output_annonars_gnomad_sv_grch38_gnomad_sv4: # -- build gnomAD-SV RocksDB annonars gnomad-sv import \ --gnomad-kind genomes \ --genome-release grch38 \ - $(for vcf in {input.vcf}; do echo --path-in-vcf $vcf; done) \ + --path-in-vcf {input.vcf} \ --path-out-rocksdb $(dirname {output.rocksdb_identity}) \ --gnomad-version {wildcards.v_gnomad} diff --git a/rules/work/annos/strucvars/gnomad_sv4.smk b/rules/work/annos/strucvars/gnomad_sv4.smk index b47d9b5..90d2008 100644 --- a/rules/work/annos/strucvars/gnomad_sv4.smk +++ b/rules/work/annos/strucvars/gnomad_sv4.smk @@ -1,28 +1,29 @@ ## Rules related to gnomAD-SV and gnomAD-CNV v4. -rule annos_strucvars_gnomad_sv_4_grch38_download: # -- download gnomAD-SV 4.0 files +rule annos_strucvars_gnomad_sv_4_grch38_download: # -- download gnomAD-SV >=4.1 files output: - vcf="work/download/annos/grch38/strucvars/gnomad_sv/4.0/gnomad.v4.0.sv.chr{chrom}.vcf.gz", + vcf="work/download/annos/grch38/strucvars/gnomad_sv/{v_gnomad}/gnomad.v{v_gnomad}.sv.{token}.vcf.gz", + wildcard_constraints: + v_gnomad=RE_VERSION, shell: r""" wget --no-check-certificate \ -O {output.vcf} \ - https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/genome_sv/gnomad.v4.0.sv.chr{wildcards.chrom}.vcf.gz + https://storage.googleapis.com/gcp-public-data--gnomad/release/{wildcards.v_gnomad}/genome_sv/gnomad.v{wildcards.v_gnomad}.sv.{wildcards.token}.vcf.gz """ rule annos_strucvars_gnomad_sv_4_grch38_process: # -- process gnomAD-SV v4 files input: - vcf=[ - f"work/download/annos/grch38/strucvars/gnomad_sv/{{version}}/gnomad.v{{version}}.sv.chr{chrom}.vcf.gz" - for chrom in list(range(1, 23)) + ["X", "Y"] - ], + vcf="work/download/annos/grch38/strucvars/gnomad_sv/{version}/gnomad.v{version}.sv.sites.vcf.gz", output: bed=f"output/full/tracks/track-strucvars-gnomad-sv-grch38-{{version}}+{DV.tracks}/gnomad-sv.bed.gz", bed_md5=f"output/full/tracks/track-strucvars-gnomad-sv-grch38-{{version}}+{DV.tracks}/gnomad-sv.bed.gz.md5", bed_tbi=f"output/full/tracks/track-strucvars-gnomad-sv-grch38-{{version}}+{DV.tracks}/gnomad-sv.bed.gz.tbi", bed_tbi_md5=f"output/full/tracks/track-strucvars-gnomad-sv-grch38-{{version}}+{DV.tracks}/gnomad-sv.bed.gz.tbi.md5", + wildcard_constraints: + version=RE_VERSION, shell: r""" export TMPDIR=$(mktemp -d) @@ -31,35 +32,33 @@ rule annos_strucvars_gnomad_sv_4_grch38_process: # -- process gnomAD-SV v4 file echo -e "#chromosome\tbegin\tend\tsv_type\tmale_n_homref\tmale_n_het\tmale_n_homalt\tmale_n_hemiref\tmale_n_hemialt\tfemale_n_homref\tfemale_n_het\tfemale_n_homalt\tcnv_n_total\tcnv_n_var" \ > $TMPDIR/tmp.bed - for vcf in {input.vcf}; do - bcftools query \ - -f "%CHROM\t%POS0\t%INFO/END\t%INFO/SVTYPE\t%INFO/MALE_N_HOMREF\t%INFO/MALE_N_HET\t%INFO/MALE_N_HOMALT\t%INFO/MALE_N_HEMIREF\t%INFO/MALE_N_HEMIALT\t%INFO/FEMALE_N_HOMREF\t%INFO/FEMALE_N_HET\t%INFO/FEMALE_N_HOMALT\t%CN_NUMBER\t%CN_COUNT\n" \ - $vcf \ - | awk -v OFS='\t' '{{ - if ($5 == ".") {{ $5 = 0; }} - if ($6 == ".") {{ $6 = 0; }} - if ($7 == ".") {{ $7 = 0; }} - if ($8 == ".") {{ $8 = 0; }} - if ($9 == ".") {{ $9 = 0; }} - if ($10 == ".") {{ $10 = 0; }} - if ($11 == ".") {{ $11 = 0; }} - if ($12 == ".") {{ $12 = 0; }} - if ($13 == ".") {{ $13 = 0; }} - if ($14 == ".") {{ - $14 = 0 - }} else {{ - sum = 0 - split($14, a, ",") - for (x in a) {{ - sum += x - }} - $14 = sum + bcftools query \ + -f "%CHROM\t%POS0\t%INFO/END\t%INFO/SVTYPE\t%INFO/N_HOMREF_XY\t%INFO/N_HET_XY\t%INFO/N_HOMALT_XY\t%INFO/N_HEMIREF_XY\t%INFO/N_HEMIALT_XY\t%INFO/N_HOMREF_XY\t%INFO/N_HET_XY\t%INFO/N_HOMALT_XY\t%CN_NUMBER\t%CN_COUNT\n" \ + {input.vcf} \ + | awk -v OFS='\t' '{{ + if ($5 == ".") {{ $5 = 0; }} + if ($6 == ".") {{ $6 = 0; }} + if ($7 == ".") {{ $7 = 0; }} + if ($8 == ".") {{ $8 = 0; }} + if ($9 == ".") {{ $9 = 0; }} + if ($10 == ".") {{ $10 = 0; }} + if ($11 == ".") {{ $11 = 0; }} + if ($12 == ".") {{ $12 = 0; }} + if ($13 == ".") {{ $13 = 0; }} + if ($14 == ".") {{ + $14 = 0 + }} else {{ + sum = 0 + split($14, a, ",") + for (x in a) {{ + sum += x }} - print $0 - }}' \ - | sed -e 's/CPX/BND/g' -e 's/CTX/BND/g' \ - >> $TMPDIR/tmp.bed - done + $14 = sum + }} + print $0 + }}' \ + | sed -e 's/CPX/BND/g' -e 's/CTX/BND/g' \ + >> $TMPDIR/tmp.bed bgzip -c $TMPDIR/tmp.bed >{output.bed} @@ -70,18 +69,20 @@ rule annos_strucvars_gnomad_sv_4_grch38_process: # -- process gnomAD-SV v4 file """ -rule annos_strucvars_gnomad_cnv_4_grch38_download: # -- download gnomAD-CNV 4.0 files +rule annos_strucvars_gnomad_cnv_4_grch38_download: # -- download gnomAD-CNV >=4.1 files output: - vcf="work/download/annos/grch38/strucvars/gnomad_cnv/4.0/gnomad.v4.0.cnv.{token}.vcf.gz", + vcf="work/download/annos/grch38/strucvars/gnomad_cnv/{v_gnomad}/gnomad.v{v_gnomad}.cnv.{token}.vcf.gz", + wildcard_constraints: + v_gnomad=RE_VERSION, shell: r""" wget --no-check-certificate \ -O {output.vcf} \ - https://storage.googleapis.com/gcp-public-data--gnomad/release/4.0/exome_cnv/gnomad.v4.0.cnv.{wildcards.token}.vcf.gz + https://storage.googleapis.com/gcp-public-data--gnomad/release/{wildcards.v_gnomad}/exome_cnv/gnomad.v{wildcards.v_gnomad}.cnv.{wildcards.token}.vcf.gz """ -rule annos_strucvars_gnomad_cnv_4_grch38_process: # -- process gnomAD-CNV 4.0 files +rule annos_strucvars_gnomad_cnv_4_grch38_process: # -- process gnomAD-CNV >=4.1 files input: vcf="work/download/annos/grch38/strucvars/gnomad_cnv/{version}/gnomad.v{version}.cnv.all.vcf.gz", output: @@ -89,6 +90,8 @@ rule annos_strucvars_gnomad_cnv_4_grch38_process: # -- process gnomAD-CNV 4.0 f bed_md5=f"output/full/tracks/track-strucvars-gnomad-cnv-grch38-{{version}}+{DV.tracks}/gnomad-cnv.bed.gz.md5", bed_tbi=f"output/full/tracks/track-strucvars-gnomad-cnv-grch38-{{version}}+{DV.tracks}/gnomad-cnv.bed.gz.tbi", bed_tbi_md5=f"output/full/tracks/track-strucvars-gnomad-cnv-grch38-{{version}}+{DV.tracks}/gnomad-cnv.bed.gz.tbi.md5", + wildcard_constraints: + version=RE_VERSION, shell: r""" set -euo pipefail diff --git a/rules/work/genes/gnomad.smk b/rules/work/genes/gnomad.smk index 76e7813..3e55eb3 100644 --- a/rules/work/genes/gnomad.smk +++ b/rules/work/genes/gnomad.smk @@ -85,21 +85,21 @@ rule genes_gnomad_convert_v2_1_1: # -- create gnomAD gene constraints TSV (v2.1 run_genes_gnomad_constraints_v2_1_1_to_tsv(input, output, wildcards) -rule genes_gnomad_download_v4_0: # -- download gnomAD gene constraints v4.0 +rule genes_gnomad_download_v4: # -- download gnomAD gene constraints v4.1 output: - tsv="work/download/genes/gnomad/4.0/gnomad.v4.0.constraint_metrics.tsv", - tsv_md5="work/download/genes/gnomad/4.0/gnomad.v4.0.constraint_metrics.tsv.md5", + tsv="work/download/genes/gnomad/{version}/gnomad.v{version}.constraint_metrics.tsv", + tsv_md5="work/download/genes/gnomad/{version}/gnomad.v{version}.constraint_metrics.tsv.md5", shell: r""" wget --no-check-certificate \ -O {output.tsv} \ - https://storage.googleapis.com/gcp-public-data--gnomad/release/v4.0/constraint/gnomad.v4.0.constraint_metrics.tsv + https://storage.googleapis.com/gcp-public-data--gnomad/release/{wildcards.version}/constraint/gnomad.v{wildcards.version}.constraint_metrics.tsv md5sum {output.tsv} >{output.tsv_md5} """ -def run_genes_gnomad_constraints_v4_0_to_tsv(input, output, wildcards): +def run_genes_gnomad_constraints_v4_to_tsv(input, output, wildcards): """Extra function because of snakefmt issues. Note that the names in the output file are taken from the v2.1.1 file. @@ -180,12 +180,12 @@ def run_genes_gnomad_constraints_v4_0_to_tsv(input, output, wildcards): ) -rule genes_gnomad_convert_v4_0: # -- create gnomAD gene constraints TSV (v4.0) +rule genes_gnomad_convert_v4: # -- create gnomAD gene constraints TSV (v4.x) input: - tsv="work/download/genes/gnomad/4.0/gnomad.v4.0.constraint_metrics.tsv", + tsv="work/download/genes/gnomad/{v_gnomad_constraints}/gnomad.v{v_gnomad_constraints}.constraint_metrics.tsv", xlink_ensembl=f"work/genes/ensembl/{DV.ensembl}/ensembl_xlink.tsv", output: - tsv="work/genes/gnomad/4.0/gnomad_constraints.tsv", - tsv_md5="work/genes/gnomad/4.0/gnomad_constraints.tsv.md5", + tsv="work/genes/gnomad/{v_gnomad_constraints}/gnomad_constraints.tsv", + tsv_md5="work/genes/gnomad/{v_gnomad_constraints}/gnomad_constraints.tsv.md5", run: - run_genes_gnomad_constraints_v4_0_to_tsv(input, output, wildcards) + run_genes_gnomad_constraints_v4_to_tsv(input, output, wildcards) diff --git a/varfish_db_downloader/versions.py b/varfish_db_downloader/versions.py index 361723c..f88559c 100644 --- a/varfish_db_downloader/versions.py +++ b/varfish_db_downloader/versions.py @@ -133,14 +133,14 @@ class DataVersions: dbnsfp="4.5", dbscsnv="1.1", cadd="1.6", - gnomad_constraints="4.0", + gnomad_constraints="4.1", gnomad_mtdna="3.1", gnomad_v2="2.1.1", gnomad_v3="3.1.2", - gnomad_v4="4.0", + gnomad_v4="4.1", gnomad_sv="2.1.1", - gnomad_cnv4="4.0", - gnomad_sv4="4.0", + gnomad_cnv4="4.1", + gnomad_sv4="4.1", dbvar="20231030", dgv="20200225", dgv_gs="20160515",