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Merge pull request #98 from PacificBiosciences/feature/deepvariant-1.6.0
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feat: Update to DeepVariant v1.6.0
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williamrowell authored Dec 15, 2023
2 parents 725861d + fc8b47f commit f92576b
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6 changes: 3 additions & 3 deletions README.md
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Expand Up @@ -172,8 +172,8 @@ These files are hosted publicly in each of the cloud backends; see `backends/${b

| Type | Name | Description | Notes |
| :- | :- | :- | :- |
| String? | deepvariant_version | Version of deepvariant to use \["1.5.0"\] | |
| [DeepVariantModel](https://github.com/PacificBiosciences/wdl-common/blob/main/wdl/structs.wdl)? | deepvariant_model | Optional alternate DeepVariant model file to use | |
| String? | deepvariant_version | Version of deepvariant to use \["1.6.0"\] | |
| File? | custom_deepvariant_model_tar | Optional alternate DeepVariant [custom model](https://github.com/PacificBiosciences/wdl-common/blob/8d868818b62345fdb64ab104238d406d65334b3e/wdl/workflows/deepvariant/README.md) to use | |
| Int? | pbsv_call_mem_gb | Optionally set RAM (GB) for pbsv_call during cohort analysis | |
| Int? | glnexus_mem_gb | Optionally set RAM (GB) for GLnexus during cohort analysis | |
| Boolean? | run_tertiary_analysis | Run the optional tertiary analysis steps \[`false`\] | \[`true`, `false`\] |
Expand Down Expand Up @@ -256,7 +256,7 @@ The Docker image used by a particular step of the workflow can be identified by
| Image | Major tool versions | Links |
| :- | :- | :- |
| bcftools | <ul><li>[bcftools 1.14](https://github.com/samtools/bcftools/releases/tag/1.14)</li></ul> | [Dockerfile](https://github.com/PacificBiosciences/wdl-dockerfiles/tree/3560fcc5a84e044067cea9c9a7669cfc2659178e/docker/bcftools) |
| deepvariant | User-defined; default is version [1.5.0](https://github.com/google/deepvariant/releases/tag/v1.5.0) | [DeepVariant GitHub](https://github.com/google/deepvariant) |
| deepvariant | User-defined; default is version [1.6.0](https://github.com/google/deepvariant/releases/tag/v1.6.0) | [DeepVariant GitHub](https://github.com/google/deepvariant) |
| glnexus | <ul><li>[glnexus v1.4.3](https://github.com/dnanexus-rnd/GLnexus/releases/tag/v1.4.3)</li></ul> | [GLnexus GitHub](https://github.com/dnanexus-rnd/GLnexus) |
| hificnv | <ul><li>[HiFiCNV v0.1.7](https://github.com/PacificBiosciences/HiFiCNV/releases/tag/v0.1.7)</li><li>[bcftools 1.16](https://github.com/samtools/bcftools/releases/tag/1.16)</li></ul> | [Dockerfile](https://github.com/PacificBiosciences/wdl-dockerfiles/tree/0b0fbe939648087e9fdea4497ae08dc76538ebf0/docker/hificnv) |
| hiphase | <ul><li>[HiPhase 1.0.0](https://github.com/PacificBiosciences/HiPhase/releases/tag/v1.0.0)</li><li>[samtools 1.18](https://github.com/samtools/samtools/releases/tag/1.18)</li><li>[bcftools 1.18](https://github.com/samtools/bcftools/releases/tag/1.18)</li></ul> | [Dockerfile](https://github.com/PacificBiosciences/wdl-dockerfiles/tree/d26db6204409dfeff56e169cdba0cc14bc272f15/docker/hiphase) |
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2 changes: 1 addition & 1 deletion backends/aws/inputs.aws.json
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Expand Up @@ -64,7 +64,7 @@
"clinvar_lookup": "s3://dnastack-resources/dataset/slivar/clinvar_gene_desc.20221214T183140.txt"
},
"humanwgs.deepvariant_version": "String (optional)",
"humanwgs.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"humanwgs.custom_deepvariant_model_tar": "File (optional)",
"humanwgs.pbsv_call_mem_gb": "Int (optional, default = if N<=3: 64 else 96)",
"humanwgs.glnexus_mem_gb": "Int (optional, default = 30)",
"humanwgs.run_tertiary_analysis": "Boolean (optional, default = false)",
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2 changes: 1 addition & 1 deletion backends/azure/inputs.azure.json
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Expand Up @@ -64,7 +64,7 @@
"clinvar_lookup": "/datasetpbrarediseases/dataset/slivar/clinvar_gene_desc.20221214T183140.txt"
},
"humanwgs.deepvariant_version": "String (optional)",
"humanwgs.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"humanwgs.custom_deepvariant_model_tar": "File (optional)",
"humanwgs.pbsv_call_mem_gb": "Int (optional, default = if N<=3: 64 else 96)",
"humanwgs.glnexus_mem_gb": "Int (optional, default = 30)",
"humanwgs.run_tertiary_analysis": "Boolean (optional, default = false)",
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2 changes: 1 addition & 1 deletion backends/gcp/inputs.gcp.json
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Expand Up @@ -64,7 +64,7 @@
"clinvar_lookup": "gs://pacbio-wdl/dataset/slivar/clinvar_gene_desc.20221214T183140.txt"
},
"humanwgs.deepvariant_version": "String (optional)",
"humanwgs.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"humanwgs.custom_deepvariant_model_tar": "File (optional)",
"humanwgs.pbsv_call_mem_gb": "Int (optional, default = if N<=3: 64 else 96)",
"humanwgs.glnexus_mem_gb": "Int (optional, default = 30)",
"humanwgs.run_tertiary_analysis": "Boolean (optional, default = false)",
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2 changes: 1 addition & 1 deletion backends/hpc/inputs.hpc.json
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Expand Up @@ -64,7 +64,7 @@
"clinvar_lookup": "<local_path_prefix>/dataset/slivar/clinvar_gene_desc.20221214T183140.txt"
},
"humanwgs.deepvariant_version": "String (optional)",
"humanwgs.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"humanwgs.custom_deepvariant_model_tar": "File (optional)",
"humanwgs.pbsv_call_mem_gb": "Int (optional, default = if N<=3: 64 else 96)",
"humanwgs.glnexus_mem_gb": "Int (optional, default = 30)",
"humanwgs.run_tertiary_analysis": "Boolean (optional, default = false)",
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18 changes: 9 additions & 9 deletions wdl-ci.config.json
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Expand Up @@ -570,7 +570,7 @@
"tasks": {
"deepvariant_make_examples": {
"key": "deepvariant_make_examples",
"digest": "35kzpf37semcoxs7frzvhjrc4zvwoyan",
"digest": "3jfeho4suf23enopqj23cx6ygviftqny",
"tests": [
{
"inputs": {
Expand Down Expand Up @@ -598,7 +598,7 @@
"task_start_index": 0,
"tasks_per_shard": 8,
"total_deepvariant_tasks": 64,
"deepvariant_version": "1.5.0",
"deepvariant_version": "1.6.0",
"runtime_attributes": "${default_runtime_attributes}"
},
"output_tests": {
Expand All @@ -620,7 +620,7 @@
},
"deepvariant_call_variants": {
"key": "deepvariant_call_variants",
"digest": "a6ksi3haiz5pye7p64c67zeeauit7gqf",
"digest": "rywffaewvhwakdysxejsrqbz7bqwzt2o",
"tests": [
{
"inputs": {
Expand All @@ -637,12 +637,12 @@
"${resources_file_path}/deepvariant/${sample_id}.56.example_tfrecords.tar.gz"
],
"total_deepvariant_tasks": 64,
"deepvariant_version": "1.5.0",
"deepvariant_version": "1.6.0",
"runtime_attributes": "${default_runtime_attributes}"
},
"output_tests": {
"tfrecord": {
"value": "${resources_file_path}/deepvariant/${sample_id}.GRCh38.call_variants_output.tfrecord.gz",
"tfrecords_tar": {
"value": "${resources_file_path}/deepvariant/${sample_id}.GRCh38.call_variants_output.tar.gz",
"test_tasks": [
"compare_file_basename",
"check_gzip"
Expand All @@ -654,12 +654,12 @@
},
"deepvariant_postprocess_variants": {
"key": "deepvariant_postprocess_variants",
"digest": "afmkoy2hy4lcyolms7n6lgzuzudr7uxx",
"digest": "ey7zqpajaeesvsg372rehhjmkpqld2qx",
"tests": [
{
"inputs": {
"sample_id": "${sample_id}",
"tfrecord": "${resources_file_path}/deepvariant/${sample_id}.GRCh38.call_variants_output.tfrecord.gz",
"tfrecords_tar": "${resources_file_path}/deepvariant/${sample_id}.GRCh38.call_variants_output.tar.gz",
"nonvariant_site_tfrecord_tars": [
"${resources_file_path}/deepvariant/${sample_id}.0.nonvariant_site_tfrecords.tar.gz",
"${resources_file_path}/deepvariant/${sample_id}.8.nonvariant_site_tfrecords.tar.gz",
Expand All @@ -674,7 +674,7 @@
"reference_index": "${datasets_file_path}/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai",
"reference_name": "GRCh38",
"total_deepvariant_tasks": 64,
"deepvariant_version": "1.5.0",
"deepvariant_version": "1.6.0",
"runtime_attributes": "${default_runtime_attributes}"
},
"output_tests": {
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2 changes: 1 addition & 1 deletion workflows/input_template.json
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Expand Up @@ -42,7 +42,7 @@
"clinvar_lookup": "File"
},
"humanwgs.deepvariant_version": "String? (optional)",
"humanwgs.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"humanwgs.custom_deepvariant_model_tar": "File (optional)",
"humanwgs.pbsv_call_mem_gb": "Int? (optional)",
"humanwgs.glnexus_mem_gb": "Int? (optional)",
"humanwgs.run_tertiary_analysis": "Boolean? (optional, default = false)",
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6 changes: 3 additions & 3 deletions workflows/main.wdl
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Expand Up @@ -13,8 +13,8 @@ workflow humanwgs {
ReferenceData reference
SlivarData? slivar_data

String deepvariant_version = "1.5.0"
DeepVariantModel? deepvariant_model
String deepvariant_version = "1.6.0"
File? custom_deepvariant_model_tar

Int? pbsv_call_mem_gb
Int? glnexus_mem_gb
Expand Down Expand Up @@ -48,7 +48,7 @@ workflow humanwgs {
sample = sample,
reference = reference,
deepvariant_version = deepvariant_version,
deepvariant_model = deepvariant_model,
custom_deepvariant_model_tar = custom_deepvariant_model_tar,
default_runtime_attributes = default_runtime_attributes
}
}
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2 changes: 1 addition & 1 deletion workflows/sample_analysis/inputs.json
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Expand Up @@ -30,7 +30,7 @@
"population_vcfs": "Array[WomCompositeType {\n data -> File\ndata_index -> File \n}]? (optional)"
},
"sample_analysis.deepvariant_version": "String",
"sample_analysis.deepvariant_model": "WomCompositeType {\n model -> WomCompositeType {\n data -> File\ndata_index -> File \n}\nmetadata -> File \n}? (optional)",
"sample_analysis.custom_deepvariant_model_tar": "File (optional)",
"sample_analysis.default_runtime_attributes": {
"preemptible_tries": "Int",
"max_retries": "Int",
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6 changes: 3 additions & 3 deletions workflows/sample_analysis/sample_analysis.wdl
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Expand Up @@ -17,7 +17,7 @@ workflow sample_analysis {
ReferenceData reference

String deepvariant_version
DeepVariantModel? deepvariant_model
File? custom_deepvariant_model_tar

RuntimeAttributes default_runtime_attributes
}
Expand Down Expand Up @@ -56,7 +56,7 @@ workflow sample_analysis {
reference_fasta = reference.fasta,
reference_name = reference.name,
deepvariant_version = deepvariant_version,
deepvariant_model = deepvariant_model,
custom_deepvariant_model_tar = custom_deepvariant_model_tar,
default_runtime_attributes = default_runtime_attributes
}

Expand Down Expand Up @@ -244,7 +244,7 @@ workflow sample_analysis {
sample: {help: "Sample information and associated data files"}
reference: {help: "Reference genome data"}
deepvariant_version: {help: "Version of deepvariant to use"}
deepvariant_model: {help: "Optional deepvariant model file to use"}
custom_deepvariant_model_tar: {help: "Optional deepvariant model to use"}
default_runtime_attributes: {help: "Default RuntimeAttributes; spot if preemptible was set to true, otherwise on_demand"}
}
}
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