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feat: integrating gnomAD v4 (#75)
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Snakefile

Lines changed: 11 additions & 11 deletions
Original file line numberDiff line numberDiff line change
@@ -122,8 +122,8 @@ rule all:
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f"work/download/annos/grch37/seqvars/dbsnp/{DV.dbsnp}/dbsnp.vcf.gz",
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f"work/annos/grch38/seqvars/helixmtdb/{DV.helixmtdb}/helixmtdb.vcf.gz",
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f"work/annos/grch38/seqvars/gnomad_mtdna/{DV.gnomad_mtdna}/gnomad_mtdna.vcf.gz",
125-
f"work/download/annos/grch38/seqvars/gnomad_exomes/{DV.gnomad_v2}/.done",
126-
f"work/download/annos/grch38/seqvars/gnomad_genomes/{DV.gnomad_v3}/.done",
125+
f"work/download/annos/grch38/seqvars/gnomad_exomes/{DV.gnomad_v4}/.done",
126+
f"work/download/annos/grch38/seqvars/gnomad_genomes/{DV.gnomad_v4}/.done",
127127
# NB: gnomAD-SV GRCh38 was announced end of 2020 but not released yet
128128
# -- genome browser "features" (position-specific)
129129
# ---- GRCh37
@@ -140,7 +140,7 @@ rule all:
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# -- mehari data
141141
# ---- frequencies (via annonars)
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f"output/full/mehari/freqs-grch37-{DV.gnomad_v2}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
143-
f"output/full/mehari/freqs-grch38-{DV.gnomad_v3}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
143+
f"output/full/mehari/freqs-grch38-{DV.gnomad_v4}+{DV.gnomad_v4}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
144144
# -- annonars data
145145
# ----- sequence variant annotations
146146
f"output/full/annonars/cadd-grch37-{DV.cadd}+{PV.annonars}/rocksdb/IDENTITY",
@@ -156,9 +156,9 @@ rule all:
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f"output/full/annonars/gnomad-mtdna-grch37-{DV.gnomad_mtdna}+{PV.annonars}/rocksdb/IDENTITY",
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f"output/full/annonars/gnomad-mtdna-grch38-{DV.gnomad_mtdna}+{PV.annonars}/rocksdb/IDENTITY",
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f"output/full/annonars/gnomad-exomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
159-
f"output/full/annonars/gnomad-exomes-grch38-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
159+
f"output/full/annonars/gnomad-exomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
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f"output/full/annonars/gnomad-genomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
161-
f"output/full/annonars/gnomad-genomes-grch38-{DV.gnomad_v3}+{PV.annonars}/rocksdb/IDENTITY",
161+
f"output/full/annonars/gnomad-genomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
162162
f"output/full/annonars/helixmtdb-grch37-{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
163163
f"output/full/annonars/helixmtdb-grch38-{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
164164
f"output/full/annonars/gnomad-sv-exomes-grch37-{DV.exac_cnv}+{PV.annonars}/rocksdb/IDENTITY",
@@ -286,12 +286,12 @@ rule all:
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f"output/reduced-dev/annonars/dbscsnv-grch37-{DV.dbscsnv}+{PV.annonars}/rocksdb/IDENTITY",
287287
f"output/reduced-dev/annonars/dbscsnv-grch38-{DV.dbscsnv}+{PV.annonars}/rocksdb/IDENTITY",
288288
f"output/reduced-dev/annonars/gnomad-exomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
289-
f"output/reduced-dev/annonars/gnomad-exomes-grch38-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
289+
f"output/reduced-dev/annonars/gnomad-exomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
290290
f"output/reduced-dev/annonars/gnomad-genomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
291-
f"output/reduced-dev/annonars/gnomad-genomes-grch38-{DV.gnomad_v3}+{PV.annonars}/rocksdb/IDENTITY",
291+
f"output/reduced-dev/annonars/gnomad-genomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
292292
# -- mehari
293293
f"output/reduced-dev/mehari/freqs-grch37-{DV.gnomad_v2}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
294-
f"output/reduced-dev/mehari/freqs-grch38-{DV.gnomad_v3}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
294+
f"output/reduced-dev/mehari/freqs-grch38-{DV.gnomad_v4}+{DV.gnomad_v4}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
295295
#
296296
# == exomes (reduced data) directories ==================================================
297297
#
@@ -318,12 +318,12 @@ rule all:
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f"output/reduced-exomes/annonars/dbscsnv-grch37-{DV.dbscsnv}+{PV.annonars}/rocksdb/IDENTITY",
319319
f"output/reduced-exomes/annonars/dbscsnv-grch38-{DV.dbscsnv}+{PV.annonars}/rocksdb/IDENTITY",
320320
f"output/reduced-exomes/annonars/gnomad-exomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
321-
f"output/reduced-exomes/annonars/gnomad-exomes-grch38-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
321+
f"output/reduced-exomes/annonars/gnomad-exomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
322322
f"output/reduced-exomes/annonars/gnomad-genomes-grch37-{DV.gnomad_v2}+{PV.annonars}/rocksdb/IDENTITY",
323-
f"output/reduced-exomes/annonars/gnomad-genomes-grch38-{DV.gnomad_v3}+{PV.annonars}/rocksdb/IDENTITY",
323+
f"output/reduced-exomes/annonars/gnomad-genomes-grch38-{DV.gnomad_v4}+{PV.annonars}/rocksdb/IDENTITY",
324324
# -- mehari
325325
f"output/reduced-exomes/mehari/freqs-grch37-{DV.gnomad_v2}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
326-
f"output/reduced-exomes/mehari/freqs-grch38-{DV.gnomad_v3}+{DV.gnomad_v2}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
326+
f"output/reduced-exomes/mehari/freqs-grch38-{DV.gnomad_v4}+{DV.gnomad_v4}+{DV.gnomad_mtdna}+{DV.helixmtdb}+{PV.annonars}/rocksdb/IDENTITY",
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# ===============================================================================================

download_urls.yml

Lines changed: 103 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -87,11 +87,11 @@
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strategy: no-excerpt
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count: null
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90-
- url: https://github.com/bihealth/mehari-data-tx/releases/download/v0.3.0/mehari-data-txs-grch37-0.3.0.bin.zst
90+
- url: https://github.com/bihealth/mehari-data-tx/releases/download/v0.4.4/mehari-data-txs-grch37-0.4.4.bin.zst
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excerpt_strategy:
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strategy: no-excerpt
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count: null
94-
- url: https://github.com/bihealth/mehari-data-tx/releases/download/v0.3.0/mehari-data-txs-grch38-0.3.0.bin.zst
94+
- url: https://github.com/bihealth/mehari-data-tx/releases/download/v0.4.4/mehari-data-txs-grch38-0.4.4.bin.zst
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excerpt_strategy:
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strategy: no-excerpt
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count: null
@@ -213,6 +213,7 @@
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count: null
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- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/2.1.1/constraint/gnomad.v2.1.1.lof_metrics.by_gene.txt.bgz
216+
- url: https://storage.googleapis.com/gcp-public-data--gnomad/release/v4.0/constraint/gnomad.v4.0.constraint_metrics.tsv
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- url: https://ftp.ncbi.nih.gov/gene/DATA/mim2gene_medgen
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218219
- comment: We replace the linux64.gene2.xml binary with a wrapper to zcat...
@@ -258,6 +259,106 @@
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- url: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/cnv/exac-final.autosome-1pct-sq60-qc-prot-coding.cnv.bed
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- url: https://ftp-trace.ncbi.nih.gov/1000genomes/ftp/phase3/integrated_sv_map/ALL.wgs.integrated_sv_map_v2.20130502.svs.genotypes.vcf.gz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr1.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr2.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr3.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr4.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr5.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr6.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr7.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr8.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr9.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr10.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr11.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr12.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr13.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr14.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr15.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr16.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr17.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr18.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr19.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr20.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr21.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr22.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrX.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chrY.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr1.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr2.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr3.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr4.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr5.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr6.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr7.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr8.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr9.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr10.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr11.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr12.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr13.vcf.bgz.tbi
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/exomes/gnomad.exomes.v4.0.sites.chr18.vcf.bgz.tbi
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335+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chrY.vcf.bgz
336+
337+
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345+
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346+
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347+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr11.vcf.bgz.tbi
348+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr12.vcf.bgz.tbi
349+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr13.vcf.bgz.tbi
350+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr14.vcf.bgz.tbi
351+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr15.vcf.bgz.tbi
352+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr16.vcf.bgz.tbi
353+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr17.vcf.bgz.tbi
354+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr18.vcf.bgz.tbi
355+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr19.vcf.bgz.tbi
356+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr20.vcf.bgz.tbi
357+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr21.vcf.bgz.tbi
358+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chr22.vcf.bgz.tbi
359+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chrX.vcf.bgz.tbi
360+
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/4.0/vcf/genomes/gnomad.genomes.v4.0.sites.chrY.vcf.bgz.tbi
361+
261362
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/2.1.1/vcf/genomes/gnomad.genomes.r2.1.1.sites.1.vcf.bgz
262363
- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/2.1.1/vcf/genomes/gnomad.genomes.r2.1.1.sites.2.vcf.bgz
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- url: https://gnomad-public-us-east-1.s3.amazonaws.com/release/2.1.1/vcf/genomes/gnomad.genomes.r2.1.1.sites.3.vcf.bgz

environment.yml

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# Parallel (de)compression.
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- pigz
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# Varfish related
44-
- annonars =0.28.0
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- viguno =0.1.6
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- mehari =0.18.1
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- varfish-server-worker =0.10.1
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- varfish-server-worker =0.10.2
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# S3 uploads
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- s5cmd =2.1.0
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