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GGD recipes, FTP > HTTP where available
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ggd-recipes/GRCh37/clinvar.yaml

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@@ -11,7 +11,7 @@ recipe:
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recipe_cmds:
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- |
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release=20170905
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baseurl=ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/archive_2.0/2017/clinvar_${release}.vcf.gz
14+
baseurl=http://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/archive_2.0/2017/clinvar_${release}.vcf.gz
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mkdir -p variation
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wget -c -O variation/clinvar-orig.vcf.gz $baseurl
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[[ -f variation/clinvar.vcf.gz ]] || zcat variation/clinvar-orig.vcf.gz | bgzip -c > variation/clinvar.vcf.gz

ggd-recipes/GRCh37/dbsnp.yaml

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@@ -11,7 +11,7 @@ recipe:
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version=150
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org=human_9606_b${version}_GRCh37p13
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release=20170710
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url=ftp://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
14+
url=http://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
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mkdir -p variation
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wget -c -O variation/dbsnp-$version-orig.vcf.gz $url
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[[ -f variation/dbsnp-$version.vcf.gz ]] || zcat variation/dbsnp-$version-orig.vcf.gz | sed "s/^chrM/MT/g" | sed "s/^chr//g" | bgzip -c > variation/dbsnp-$version.vcf.gz

ggd-recipes/GRCh37/giab-NA12878-NA24385-somatic.yaml

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@@ -1,5 +1,5 @@
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# Truth set for NA12878/NA24385 somatic mixture
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# ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
2+
# http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
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---
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attributes:
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name: giab-NA12878-NA24385-somatic
@@ -10,7 +10,7 @@ recipe:
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recipe_cmds:
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dir=validation/giab-NA12878-NA24385-somatic
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
13+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
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calls=na12878-na24385-somatic-truth.vcf.gz
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regions=na12878-na24385-somatic-truth-regions.bed
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mkdir -p $dir

ggd-recipes/GRCh37/giab-NA12878.yaml

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@@ -9,15 +9,15 @@ recipe:
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recipe_cmds:
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dir=validation/giab-NA12878
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh37/
12+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh37/
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calls=HG001_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_PGandRTGphasetransfer.vcf.gz
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regions=HG001_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_nosomaticdel.bed
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mkdir -p $dir
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wget -c -O $dir/truth_small_variants.vcf.gz $url/$calls
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tabix -f -p vcf $dir/truth_small_variants.vcf.gz
18-
wget -c -O $dir/truth_regions.bed $url/$regions
19-
wget -O - ftp://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Personalis_1000_Genomes_deduplicated_deletions.bed | grep -v ^Chr > $dir/truth_DEL.bed
20-
wget -O - ftp://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Spiral_Genetics_insertions.bed | grep -v ^Chr > $dir/truth_INS.bed
18+
wget -c -O $dir/truth_regions.bed $url/$regions
19+
wget -O - http://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Personalis_1000_Genomes_deduplicated_deletions.bed | grep -v ^Chr > $dir/truth_DEL.bed
20+
wget -O - http://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Spiral_Genetics_insertions.bed | grep -v ^Chr > $dir/truth_INS.bed
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recipe_outfiles:
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- validation/giab-NA12878/truth_small_variants.vcf.gz
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- validation/giab-NA12878/truth_small_variants.vcf.gz.tbi

ggd-recipes/GRCh37/giab-NA24385.yaml

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@@ -11,20 +11,20 @@ recipe:
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recipe_cmds:
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dir=validation/giab-NA24385
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh37/
14+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh37/
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calls=HG002_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-22_v.3.3.2_highconf_triophased.vcf.gz
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regions=HG002_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-22_v.3.3.2_highconf_noinconsistent.bed
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mkdir -p $dir
1818
wget -c -O $dir/truth_small_variants.vcf.gz $url/$calls
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tabix -f -p vcf $dir/truth_small_variants.vcf.gz
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wget -c -O $dir/truth_regions.bed $url/$regions
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wget -c -O $dir/truth_regions.bed $url/$regions
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delurl=https://s3.amazonaws.com/bcbio/giab/NA24385/NA24385-GIAB-2tech-dels-v0_1_8-GRCh37.bed.gz
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wget -c -O $dir/truth_DEL_giab.bed.gz $delurl
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wget -c -O $dir/truth_DEL_giab.bed.gz.tbi $delurl.tbi
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cnvurl=https://s3.amazonaws.com/bcbio/giab/NA24385/NA24385-crowd-dels-GRCh37.bed.gz
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wget -c -O $dir/truth_DEL_crowd.bed.gz $cnvurl
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wget -c -O $dir/truth_DEL_crowd.bed.gz.tbi $cnvurl.tbi
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svurl=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/analysis/NIST_UnionSVs_12122017/svanalyzer_union_171212_v0.5.0_annotated.vcf.gz
27+
svurl=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/analysis/NIST_UnionSVs_12122017/svanalyzer_union_171212_v0.5.0_annotated.vcf.gz
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wget -c -O $dir/truth_sv.vcf.gz $svurl
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wget -c -O $dir/truth_sv.vcf.gz.tbi $svurl.tbi
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recipe_outfiles:

ggd-recipes/GRCh37/giab-NA24631.yaml

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recipe_cmds:
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dir=validation/giab-NA24631
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh37/
12+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh37/
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calls=HG005_GRCh37_highconf_CG-IllFB-IllGATKHC-Ion-SOLID_CHROM1-22_v.3.3.2_highconf.vcf.gz
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regions=HG005_GRCh37_highconf_CG-IllFB-IllGATKHC-Ion-SOLID_CHROM1-22_v.3.3.2_highconf_noMetaSV.bed
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mkdir -p $dir
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wget -c -O $dir/truth_small_variants.vcf.gz $url/$calls
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tabix -f -p vcf $dir/truth_small_variants.vcf.gz
18-
wget -c -O $dir/truth_regions.bed $url/$regions
18+
wget -c -O $dir/truth_regions.bed $url/$regions
1919
recipe_outfiles:
2020
- validation/giab-NA24631/truth_small_variants.vcf.gz
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- validation/giab-NA24631/truth_small_variants.vcf.gz.tbi

ggd-recipes/GRCh37/gnomad.yaml

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recipe_type: bash
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recipe_cmds:
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url=ftp://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh37/variation_genotype/gnomad.genomes.r2.0.1.sites.noVEP.vcf.gz
11+
url=http://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh37/variation_genotype/gnomad.genomes.r2.0.1.sites.noVEP.vcf.gz
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ref=../seq/GRCh37.fa
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mkdir -p variation
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export TMPDIR=`pwd`

ggd-recipes/GRCz11/seq.yaml

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recipe_cmds:
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BUILD=GRCz11
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url=ftp://ftp.ensembl.org/pub/release-92/fasta/danio_rerio/dna/Danio_rerio.GRCz11.dna.toplevel.fa.gz
11+
url=http://ftp.ensembl.org/pub/release-92/fasta/danio_rerio/dna/Danio_rerio.GRCz11.dna.toplevel.fa.gz
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mkdir -p seq
1313
wget --no-check-certificate -O - $url | gunzip -c > seq/$BUILD.fa
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samtools faidx seq/$BUILD.fa

ggd-recipes/Sscrofa11.1/seq.yaml

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recipe_cmds:
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BUILD=Sscrofa11.1
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url=ftp://ftp.ensembl.org/pub/release-92/fasta/sus_scrofa/dna/Sus_scrofa.Sscrofa11.1.dna_rm.toplevel.fa.gz
11+
url=http://ftp.ensembl.org/pub/release-92/fasta/sus_scrofa/dna/Sus_scrofa.Sscrofa11.1.dna_rm.toplevel.fa.gz
1212
mkdir -p seq
1313
wget --no-check-certificate -O - $url | gunzip -c > seq/$BUILD.fa
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samtools faidx seq/$BUILD.fa

ggd-recipes/hg19/clinvar.yaml

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recipe_cmds:
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release=20170905
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baseurl=ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/archive_2.0/2017/clinvar_${release}.vcf.gz
14+
baseurl=http://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/archive_2.0/2017/clinvar_${release}.vcf.gz
1515
mkdir -p variation
1616
wget -c -O variation/clinvar-orig.vcf.gz $baseurl
1717
[[ -f variation/clinvar.vcf.gz ]] || zcat variation/clinvar-orig.vcf.gz | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" | bgzip -c > variation/clinvar.vcf.gz

ggd-recipes/hg19/dbsnp.yaml

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version=150
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org=human_9606_b${version}_GRCh37p13
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release=20170710
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url=ftp://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
14+
url=http://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
1515
mkdir -p variation
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wget -c -O variation/dbsnp-$version-orig.vcf.gz $url
1717
[[ -f variation/dbsnp-$version.vcf.gz ]] || zcat variation/dbsnp-$version-orig.vcf.gz | bgzip -c > variation/dbsnp-$version.vcf.gz

ggd-recipes/hg19/giab-NA12878.yaml

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dir=validation/giab-NA12878
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remapurl=https://raw.githubusercontent.com/dpryan79/ChromosomeMappings/master/GRCh37_ensembl2UCSC.txt
15-
url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh37/
15+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh37/
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calls=HG001_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_PGandRTGphasetransfer.vcf.gz
1717
regions=HG001_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_nosomaticdel.bed
1818
mkdir -p $dir
1919
wget -qO- $remapurl | awk '{if($1!=$2) print "s/^"$1"/"$2"/g"}' > remap.sed
2020
wget -c -O - $url/$calls | gunzip -c | sed -f remap.sed | grep -v "##contig=" | bgzip -c > $dir/truth_small_variants.vcf.gz
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tabix -f -p vcf $dir/truth_small_variants.vcf.gz
2222
wget -c -O - $url/$regions | sed -f remap.sed > $dir/truth_regions.bed
23-
wget -O - ftp://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Personalis_1000_Genomes_deduplicated_deletions.bed | grep -v ^Chr | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" > $dir/truth_DEL.bed
24-
wget -O - ftp://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Spiral_Genetics_insertions.bed | grep -v ^Chr | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" > $dir/truth_INS.bed
23+
wget -O - http://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Personalis_1000_Genomes_deduplicated_deletions.bed | grep -v ^Chr | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" > $dir/truth_DEL.bed
24+
wget -O - http://ftp.ncbi.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Spiral_Genetics_insertions.bed | grep -v ^Chr | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" > $dir/truth_INS.bed
2525
recipe_outfiles:
2626
- validation/giab-NA12878/truth_small_variants.vcf.gz
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- validation/giab-NA12878/truth_small_variants.vcf.gz.tbi

ggd-recipes/hg19/giab-NA24385.yaml

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recipe_cmds:
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dir=validation/giab-NA24385
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh37/
12+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh37/
1313
calls=HG002_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-22_v.3.3.2_highconf_triophased.vcf.gz
1414
regions=HG002_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-22_v.3.3.2_highconf_noinconsistent.bed
1515
remapurl=https://raw.githubusercontent.com/dpryan79/ChromosomeMappings/master/GRCh37_ensembl2UCSC.txt
@@ -24,7 +24,7 @@ recipe:
2424
cnvurl=https://s3.amazonaws.com/bcbio/giab/NA24385/NA24385-crowd-dels-hg19.bed.gz
2525
wget -c -O $dir/truth_DEL_crowd.bed.gz $cnvurl
2626
wget -c -O $dir/truth_DEL_crowd.bed.gz.tbi $cnvurl.tbi
27-
svurl=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/analysis/NIST_UnionSVs_12122017/svanalyzer_union_171212_v0.5.0_annotated.vcf.gz
27+
svurl=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/analysis/NIST_UnionSVs_12122017/svanalyzer_union_171212_v0.5.0_annotated.vcf.gz
2828
wget -c -O - $svurl | gunzip -c | sed -f remap.sed | grep -v "##contig=" | bgzip -c > $dir/truth_sv.vcf.gz
2929
tabix -f -p vcf $dir/truth_sv.vcf.gz
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recipe_outfiles:

ggd-recipes/hg19/giab-NA24631.yaml

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recipe_cmds:
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dir=validation/giab-NA24631
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh37/
12+
url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh37/
1313
calls=HG005_GRCh37_highconf_CG-IllFB-IllGATKHC-Ion-SOLID_CHROM1-22_v.3.3.2_highconf.vcf.gz
1414
regions=HG005_GRCh37_highconf_CG-IllFB-IllGATKHC-Ion-SOLID_CHROM1-22_v.3.3.2_highconf_noMetaSV.bed
1515
remapurl=https://raw.githubusercontent.com/dpryan79/ChromosomeMappings/master/GRCh37_ensembl2UCSC.txt

ggd-recipes/hg19/gnomad.yaml

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recipe_type: bash
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recipe_cmds:
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url=ftp://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh37/variation_genotype/gnomad.genomes.r2.0.1.sites.noVEP.vcf.gz
12+
url=http://ftp.ensembl.org/pub/data_files/homo_sapiens/GRCh37/variation_genotype/gnomad.genomes.r2.0.1.sites.noVEP.vcf.gz
1313
remap_url=https://raw.githubusercontent.com/dpryan79/ChromosomeMappings/master/GRCh37_ensembl2UCSC.txt
1414
ref=../seq/hg19.fa
1515
mkdir -p variation

ggd-recipes/hg38-noalt/README.md

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Human reference genome: GRCh38/hg38 without any alternative reference contigs
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ftp://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids/
3+
http://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids/

ggd-recipes/hg38-noalt/bowtie2.yaml

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base=GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.bowtie_index
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new=hg38-noalt.fa
13-
ncbiurl=ftp://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids
13+
ncbiurl=http://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids
1414
wget -c $ncbiurl/$base.tar.gz
1515
[[ -f $base.1.bt2 ]] || tar -xzvpf $base.tar.gz
1616
mkdir -p bowtie2

ggd-recipes/hg38-noalt/bwa.yaml

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base=GCA_000001405.15_GRCh38_no_alt_analysis_set.fna
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new=hg38-noalt.fa
13-
ncbiurl=ftp://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids
13+
ncbiurl=http://ftp.ncbi.nlm.nih.gov/genomes/genbank/vertebrate_mammalian/Homo_sapiens/all_assembly_versions/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids
1414
wget -c $ncbiurl/$base.bwa_index.tar.gz
1515
[[ -f $base.fna.bwt ]] || tar -xzvpf $base.bwa_index.tar.gz
1616
mkdir -p bwa

ggd-recipes/hg38-noalt/gtf.yaml

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recipe_type: bash
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recipe_cmds:
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url=ftp://ftp.ensembl.org/pub/release-78/gtf/homo_sapiens/Homo_sapiens.GRCh38.78.gtf.gz
13+
url=http://ftp.ensembl.org/pub/release-78/gtf/homo_sapiens/Homo_sapiens.GRCh38.78.gtf.gz
1414
mkdir -p rnaseq
1515
remap_url=http://raw.githubusercontent.com/dpryan79/ChromosomeMappings/master/GRCh38_ensembl2UCSC.txt
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wget -qO- $remap_url | awk '{if($1!=$2) print "s/^"$1"/"$2"/g"}' > remap.sed

ggd-recipes/hg38/README.md

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Full hg38/GRCh38 reference genome distributed by 1000 genomes
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Derived from NCBI set with HLA and decoy alternative alleles
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ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome/
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http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome/

ggd-recipes/hg38/bwa.yaml

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# Full hg38/GRCh38 reference genome distributed by 1000 genomes
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# Derived from NCBI set with HLA and decoy alternative alleles
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# ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome/
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# http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome/
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# Pre-build bwa indices
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---
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attributes:
@@ -11,7 +11,7 @@ recipe:
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recipe_type: bash
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recipe_cmds:
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- |
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url=ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome
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url=http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh38_reference_genome
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base=GRCh38_full_analysis_set_plus_decoy_hla.fa
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new=hg38.fa
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mkdir -p bwa

ggd-recipes/hg38/clinvar.yaml

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recipe_cmds:
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- |
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release=20170905
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baseurl=ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/archive_2.0/2017/clinvar_${release}.vcf.gz
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baseurl=http://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/archive_2.0/2017/clinvar_${release}.vcf.gz
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mkdir -p variation
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wget -c -O variation/clinvar-orig.vcf.gz $baseurl
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[[ -f variation/clinvar.vcf.gz ]] || zcat variation/clinvar-orig.vcf.gz | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" | bgzip -c > variation/clinvar.vcf.gz

ggd-recipes/hg38/dbsnp.yaml

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version=150
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org=human_9606_b${version}_GRCh38p7
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release=20170710
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url=ftp://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
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url=http://ftp.ncbi.nih.gov/snp/organisms/$org/VCF/GATK/All_${release}.vcf.gz
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mkdir -p variation
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wget -c -O variation/dbsnp-$version-orig.vcf.gz $url
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[[ -f variation/dbsnp-$version.vcf.gz ]] || zcat variation/dbsnp-$version-orig.vcf.gz | sed "s/^\([0-9]\+\)\t/chr\1\t/g" | sed "s/^MT/chrM/g" | sed "s/^X/chrX/g" | sed "s/^Y/chrY/g" | bgzip -c > variation/dbsnp-$version.vcf.gz

ggd-recipes/hg38/giab-NA12878-NA24385-somatic.yaml

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# Truth set for NA12878/NA24385 somatic mixture
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# ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
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# http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/use_cases/mixtures/UMCUTRECHT_NA12878_NA24385_mixture_10052016/
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---
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attributes:
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name: giab-NA12878-NA24385-somatic

ggd-recipes/hg38/giab-NA12878.yaml

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recipe_cmds:
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- |
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dir=validation/giab-NA12878
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh38/
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url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh38/
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calls=HG001_GRCh38_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_PGandRTGphasetransfer.vcf.gz
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regions=HG001_GRCh38_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf_nosomaticdel_noCENorHET7.bed
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mkdir -p $dir

ggd-recipes/hg38/giab-NA24385.yaml

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recipe_cmds:
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- |
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dir=validation/giab-NA24385
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh38/
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url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh38/
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calls=HG002_GRCh38_GIAB_highconf_CG-Illfb-IllsentieonHC-Ion-10XsentieonHC-SOLIDgatkHC_CHROM1-22_v.3.3.2_highconf_triophased.vcf.gz
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regions=HG002_GRCh38_GIAB_highconf_CG-Illfb-IllsentieonHC-Ion-10XsentieonHC-SOLIDgatkHC_CHROM1-22_v.3.3.2_highconf_noinconsistent.bed
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mkdir -p $dir

ggd-recipes/hg38/giab-NA24631.yaml

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recipe_cmds:
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- |
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dir=validation/giab-NA24631
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url=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh38/
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url=http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/ChineseTrio/HG005_NA24631_son/NISTv3.3.2/GRCh38/
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calls=HG005_GRCh38_GIAB_highconf_CG-Illfb-IllsentieonHC-Ion-10XsentieonHC-SOLIDgatkHC_CHROM1-22_v.3.3.2_highconf.vcf.gz
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regions=HG005_GRCh38_GIAB_highconf_CG-Illfb-IllsentieonHC-Ion-10XsentieonHC-SOLIDgatkHC_CHROM1-22_v.3.3.2_highconf.bed
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mkdir -p $dir

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