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Added pbsv_splits to input templates. Updated Zenodo links.
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williamrowell committed Oct 6, 2023
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1 change: 1 addition & 0 deletions backends/aws/inputs.aws.json
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"data": "s3://dnastack-resources/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta",
"data_index": "s3://dnastack-resources/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai"
},
"pbsv_splits": "s3://dnastack-resources/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.pbsv_splits.json",
"tandem_repeat_bed": "s3://dnastack-resources/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.trf.bed",
"trgt_tandem_repeat_bed": "s3://dnastack-resources/dataset/GRCh38/trgt/human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed",
"hificnv_exclude_bed": {
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1 change: 1 addition & 0 deletions backends/azure/inputs.azure.json
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"data": "/datasetpbrarediseases/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta",
"data_index": "/datasetpbrarediseases/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai"
},
"pbsv_splits": "/datasetpbrarediseases/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.pbsv_splits.json",
"tandem_repeat_bed": "/datasetpbrarediseases/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.trf.bed",
"trgt_tandem_repeat_bed": "/datasetpbrarediseases/dataset/GRCh38/trgt/human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed",
"hificnv_exclude_bed": {
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1 change: 1 addition & 0 deletions backends/gcp/inputs.gcp.json
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"data": "gs://pacbio-wdl/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta",
"data_index": "gs://pacbio-wdl/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai"
},
"pbsv_splits": "gs://pacbio-wdl/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.pbsv_splits.json",
"tandem_repeat_bed": "gs://pacbio-wdl/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.trf.bed",
"trgt_tandem_repeat_bed": "gs://pacbio-wdl/dataset/GRCh38/trgt/human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed",
"hificnv_exclude_bed": {
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6 changes: 3 additions & 3 deletions backends/hpc/README.md
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Expand Up @@ -35,13 +35,13 @@ See [the inputs section of the main README](../../README.md#workflow-inputs) for

# Reference data bundle

![https://doi.org/10.5281/zenodo.8381621](https://zenodo.org/badge/DOI/10.5281/zenodo.8381621.svg)
![https://doi.org/10.5281/zenodo.8415406](https://zenodo.org/badge/DOI/10.5281/zenodo.8415406.svg)

Reference data is hosted on Zenodo at [10.5281/zenodo.8381621](https://zenodo.org/record/8381621). Download the reference data bundle and extract it to a location on your HPC, then update the input template file with the path to the reference data.
Reference data is hosted on Zenodo at [10.5281/zenodo.8415406](https://zenodo.org/record/8415406). Download the reference data bundle and extract it to a location on your HPC, then update the input template file with the path to the reference data.

```bash
# download the reference data bundle
wget https://zenodo.org/record/8381621/files/wdl-humanwgs.v1.0.1.resources.tgz
wget https://zenodo.org/record/8415406/files/wdl-humanwgs.v1.0.1.resources.tgz

# extract the reference data bundle and rename as dataset
tar -xzf wdl-humanwgs.v1.0.1.resources.tgz && mv static_resources dataset
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1 change: 1 addition & 0 deletions backends/hpc/inputs.hpc.json
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"data": "<local_path_prefix>/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta",
"data_index": "<local_path_prefix>/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai"
},
"pbsv_splits": "<local_path_prefix>/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.pbsv_splits.json",
"tandem_repeat_bed": "<local_path_prefix>/dataset/GRCh38/human_GRCh38_no_alt_analysis_set.trf.bed",
"trgt_tandem_repeat_bed": "<local_path_prefix>/dataset/GRCh38/trgt/human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed",
"hificnv_exclude_bed": {
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1 change: 1 addition & 0 deletions workflows/cohort_analysis/inputs.json
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"data": "File",
"data_index": "File"
},
"pbsv_splits": "File",
"hificnv_expected_bed_male": "File",
"hificnv_expected_bed_female": "File",
"gnomad_af": "File? (optional)",
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1 change: 1 addition & 0 deletions workflows/sample_analysis/inputs.json
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"data": "File",
"data_index": "File"
},
"pbsv_splits": "File",
"tandem_repeat_bed": "File",
"trgt_tandem_repeat_bed": "File",
"hificnv_exclude_bed": {
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1 change: 1 addition & 0 deletions workflows/tertiary_analysis/inputs.json
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"data": "File",
"data_index": "File"
},
"pbsv_splits": "File",
"tandem_repeat_bed": "File",
"trgt_tandem_repeat_bed": "File",
"gnomad_af": "File",
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