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Merge pull request #13 from kids-first/bug/mb-update-ref-pointers
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🔧 Update ref pointers
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migbro authored May 13, 2024
2 parents fe01219 + 425dfa1 commit c380c66
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4 changes: 2 additions & 2 deletions docs/SOMATIC_SNV_ANNOT_README.md
Original file line number Diff line number Diff line change
Expand Up @@ -38,7 +38,7 @@ Secondary files needed for each reference file will be a sub-bullet point
- `Homo_sapiens_assembly38.fasta.fai`
- `Homo_sapiens_assembly38.dict`
- `echtvar_anno_zips`: `gnomad.v3.1.1.custom.echtvar.zip`
- `bcftools_strip_columns`: "csv string of columns to strip if needed to avoid conflict, i.e INFO/AF
- `bcftools_strip_columns`: csv string of columns to strip if needed to avoid conflict, i.e INFO/AF
- `bcftools_public_filter`: 'FILTER="PASS"|INFO/HotSpotAllele=1'
- `gatk_filter_name`: ["NORM_DP_LOW", "GNOMAD_AF_HIGH"]
- `gatk_filter_expression`: ["vc.getGenotype('insert_normal_sample_name').getDP() <= 7", "gnomad_3_1_1_AF != '.' && gnomad_3_1_1_AF > 0.001 && gnomad_3_1_1_FILTER=='PASS'"] # NOTE!! Replace `insert_normal_sample_name` with the value you'd use for `input_normal_name`! # NOTE!! If your annotation includes dot values, those values must first be excluded! If they are not, GATK will error trying to convert those values!
Expand All @@ -65,7 +65,7 @@ For each input, the sub-bullet refers to when to use the suggested input
- Vardict: "HGVSg"
- `bcftools_strip_columns` # if reannotating an old file:
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/CSQ,INFO/HotSpotAllele" # recommended if re-annotating from an older VEP cache
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/HotSpotAllele" # recommended if repeating hot spot an d want to keep VEP
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/HotSpotAllele" # recommended if repeating hot spot and want to keep VEP
- `bcftools_prefilter_csv` # if annotating a file with calls you want screen for, use this. i.e `FILTER="PASS"`
- `disable_vep_annotation` # set to `True` if existing VEP annotation of file is ok
- `tool_name`:
Expand Down
10 changes: 5 additions & 5 deletions tools/bcftools_filter_vcf.cwl
Original file line number Diff line number Diff line change
Expand Up @@ -10,7 +10,7 @@ requirements:
ramMin: 1000
coresMin: 1
- class: InlineJavascriptRequirement
baseCommand: []
baseCommand: [bash -c 'set -eo pipefail &&]
arguments:
- position: 1
shellQuote: false
Expand All @@ -22,18 +22,18 @@ arguments:
}
var cmd = "bcftools view ";
if (inputs.include_expression != null){
cmd += "--include '" + inputs.include_expression + "' " + inputs.input_vcf.path;
cmd += "--include \"" + inputs.include_expression + "\" " + inputs.input_vcf.path;
if (inputs.exclude_expression != null){
cmd += " | bcftools view --exclude '" + inputs.exclude_expression + "' -O z > " + out_base + ".vcf.gz;";
cmd += " | bcftools view --exclude \"" + inputs.exclude_expression + "\"' -O z > " + out_base + ".vcf.gz;";
} else {
cmd += " -O z > " + out_base + ".vcf.gz;";
}
} else if (inputs.include_expression == null && inputs.exclude_expression != null){
cmd += "--exclude '" + inputs.exclude_expression + "' " + inputs.input_vcf.path + " -O z > " + out_base + ".vcf.gz;";
cmd += "--exclude \"" + inputs.exclude_expression + "\" " + inputs.input_vcf.path + " -O z > " + out_base + ".vcf.gz;";
} else if (inputs.include_expression == null && inputs.exclude_expression == null){
cmd = "cp " + inputs.input_vcf.path + " ./" + out_base + ".vcf.gz;";
}
cmd += "tabix " + out_base + ".vcf.gz;"
cmd += "tabix " + out_base + ".vcf.gz;'"
return cmd;
}
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12 changes: 6 additions & 6 deletions workflows/kfdrc-somatic-snv-annot-workflow.cwl
Original file line number Diff line number Diff line change
Expand Up @@ -43,7 +43,7 @@ doc: |
- `Homo_sapiens_assembly38.fasta.fai`
- `Homo_sapiens_assembly38.dict`
- `echtvar_anno_zips`: `gnomad.v3.1.1.custom.echtvar.zip`
- `bcftools_strip_columns`: "csv string of columns to strip if needed to avoid conflict, i.e INFO/AF
- `bcftools_strip_columns`: csv string of columns to strip if needed to avoid conflict, i.e INFO/AF
- `bcftools_public_filter`: 'FILTER="PASS"|INFO/HotSpotAllele=1'
- `gatk_filter_name`: ["NORM_DP_LOW", "GNOMAD_AF_HIGH"]
- `gatk_filter_expression`: ["vc.getGenotype('insert_normal_sample_name').getDP() <= 7", "gnomad_3_1_1_AF != '.' && gnomad_3_1_1_AF > 0.001 && gnomad_3_1_1_FILTER=='PASS'"] # NOTE!! Replace `insert_normal_sample_name` with the value you'd use for `input_normal_name`! # NOTE!! If your annotation includes dot values, those values must first be excluded! If they are not, GATK will error trying to convert those values!
Expand All @@ -70,7 +70,7 @@ doc: |
- Vardict: "HGVSg"
- `bcftools_strip_columns` # if reannotating an old file:
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/CSQ,INFO/HotSpotAllele" # recommended if re-annotating from an older VEP cache
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/HotSpotAllele" # recommended if repeating hot spot an d want to keep VEP
- "FILTER/GNOMAD_AF_HIGH,FILTER/NORM_DP_LOW,INFO/HotSpotAllele" # recommended if repeating hot spot and want to keep VEP
- `bcftools_prefilter_csv` # if annotating a file with calls you want screen for, use this. i.e `FILTER="PASS"`
- `disable_vep_annotation` # set to `True` if existing VEP annotation of file is ok
- `tool_name`:
Expand Down Expand Up @@ -146,10 +146,10 @@ inputs:
class: File, path: 607713829360f10e3982a423, name: tert.bed}]}
protein_snv_hotspots: {type: 'File[]?', doc: "Column-name-containing, tab-delimited
file(s) containing protein names and amino acid positions corresponding to hotspots",
"sbg:suggestedValue": [{class: File, path: 645919782fe81458768c552c, name: protein_snv_cancer_hotspots_v2.ENS105_liftover.tsv}]}
"sbg:suggestedValue": [{class: File, path: 663d2bcc27374715fccd8c6a, name: protein_snv_cancer_hotspots_v2.ENS105_liftover.tsv}]}
protein_indel_hotspots: {type: 'File[]?', doc: "Column-name-containing, tab-delimited
file(s) containing protein names and amino acid position ranges corresponding
to hotspots", "sbg:suggestedValue": [{class: File, path: 645919782fe81458768c552d,
to hotspots", "sbg:suggestedValue": [{class: File, path: 663d2bcc27374715fccd8c6f,
name: protein_indel_cancer_hotspots_v2.ENS105_liftover.tsv}]}
output_basename: string
tool_name: string
Expand All @@ -161,7 +161,7 @@ inputs:
to retain as extra columns in MAF"}
maf_center: {type: 'string?', doc: "Sequencing center of variant called", default: "."}
custom_enst: {type: 'File?', doc: "Use a file with ens tx IDs for each gene to override
VEP PICK", "sbg:suggestedValue": {class: File, path: 6480c8a61dfc710d24a3a368,
VEP PICK", "sbg:suggestedValue": {class: File, path: 663d2bcc27374715fccd8c65,
name: kf_isoform_override.tsv}}
outputs:
annotated_protected: {type: 'File[]', outputSource: rename_protected/renamed_files}
Expand Down Expand Up @@ -352,5 +352,5 @@ $namespaces:
"sbg:license": Apache License 2.0
"sbg:publisher": KFDRC
"sbg:links":
- id: 'https://github.com/kids-first/kf-annotation-tools/releases/tag/v1.2.0'
- id: 'https://github.com/kids-first/kf-annotation-tools/releases/tag/v1.2.1'
label: github-release

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