Skip to content

Commit 240bdaa

Browse files
committed
v3.3.0 release
- refactor: Update all workflows, tasks, and subworkflows for sprocket compatibility - reformat meta and parameter_meta - symlink most inputs into working directory - quote most filenames - bump: update HiPhase to 1.6.0 - bump: update pbmm2 to 26.1.0 - bump: update pb-StarPhase to 2.0.1 - bump: update Mitorsaw to 0.2.7 - bump: update Paraphase to 3.5.0 - bump: update MethBat to 0.17.0 - bump: update DeepVariant to 1.10.0 - refactor: rename Boolean gpu to Boolean use_gpu for clarity - feature: add option Boolean use_parabricks_deepvariant to use Parabricks 4.7.0-1 DeepVariant for small variant calling (equivalent to DeepVariant 1.9.0) - docs: add documentation for Parabricks DeepVariant - refactor: increase resource allocation for tasks that are not IO-bound - refactor: remove GitHub Actions - refactor: removing wdl-common submodule to reduce complexity
1 parent 1527e6e commit 240bdaa

88 files changed

Lines changed: 8889 additions & 4344 deletions

File tree

Some content is hidden

Large Commits have some content hidden by default. Use the searchbox below for content that may be hidden.

.github/workflows/lint-test-workflows.yml

Lines changed: 0 additions & 23 deletions
This file was deleted.

.gitignore

Lines changed: 4 additions & 13 deletions
Original file line numberDiff line numberDiff line change
@@ -1,15 +1,6 @@
1-
inputs.test_data*.json
2-
.wdltest*
3-
4-
*.zip
5-
6-
Makefile
71
.env
2+
.venv
3+
sprocket-docs
4+
test
85

9-
tests
10-
miniwdl_singularity_cache
11-
miniwdl_download_cache
12-
miniwdl_call_cache
13-
miniwdl_test_output
14-
15-
.venv
6+
*.zip

.gitmodules

Lines changed: 0 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -1,6 +1,3 @@
1-
[submodule "workflows/wdl-common"]
2-
path = workflows/wdl-common
3-
url = ../wdl-common.git
41
[submodule "wiki"]
52
path = wiki
63
url = ../HiFi-human-WGS-WDL.wiki

GRCh38.tertiary_map.v3p1p0.template.tsv

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -9,4 +9,4 @@ slivar_max_nhomalt 4
99
slivar_max_ac 4
1010
slivar_min_gq 5
1111
svpack_pop_vcfs <prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz,<prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz
12-
svpack_pop_vcf_indices <prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz.tbi,<prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz.tbi
12+
svpack_pop_vcf_indices <prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz.tbi,<prefix>/hifi-wdl-resources-v3.1.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz.tbi

LICENSE

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -1,4 +1,4 @@
1-
Copyright (c) 2024, Pacific Biosciences of California, Inc.
1+
Copyright (c) 2026, Pacific Biosciences of California, Inc.
22

33
All rights reserved.
44

README.md

Lines changed: 15 additions & 16 deletions
Original file line numberDiff line numberDiff line change
@@ -9,11 +9,11 @@ Workflow for analyzing human PacBio whole genome sequencing (WGS) data using [Wo
99

1010
## Workflow
1111

12-
Starting in v2, this repo contains two related workflows. The `singleton` workflow is designed to analyze a single sample, while the `family` workflow is designed to analyze a family of related samples. With the exception of the joint calling tasks in the `family` workflow, both workflows make use of the same tasks, although the input and output structure differ.
12+
Starting in v2, this repo contains two related workflows. The `singleton` workflow is designed to analyze a single sample, while the `family` workflow is designed to analyze a family of related samples. With the exception of the joint calling tasks in the `family` workflow, both workflows make use of the same tasks, although the input and output structure differ.
1313

14-
The `family` workflow will be best for most use cases. The `singleton` workflow inputs and output structures are relatively flat, which should improve compatibility with platforms like Terra.
14+
The `family` workflow will be best for most use cases. The `singleton` workflow inputs and output structures are relatively flat, which should improve compatibility with platforms like Terra.
1515

16-
Both workflows are designed to analyze human PacBio whole genome sequencing (WGS) data. The workflows are designed to be run on Azure, AWS HealthOmics, GCP, or HPC backends.
16+
Both workflows are designed to analyze human PacBio whole genome sequencing (WGS) data. The workflows are designed to be run on Azure, AWS HealthOmics, GCP, or HPC backends.
1717

1818
**Workflow entrypoint**:
1919

@@ -24,27 +24,26 @@ Both workflows are designed to analyze human PacBio whole genome sequencing (WGS
2424

2525
This is an actively developed workflow with multiple versioned releases, and we make use of git submodules for common tasks that are shared by multiple workflows. There are two ways to ensure you are using a supported release of the workflow and ensure that the submodules are correctly initialized:
2626

27-
1) Download the release zips directly from a [supported release](https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/tag/v3.2.1):
27+
1) Download the release zips directly from a [supported release](https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/tag/v3.3.0):
2828

29-
```bash
30-
wget https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/download/v3.2.1/hifi-human-wgs-singleton.zip
31-
wget https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/download/v3.2.1/hifi-human-wgs-family.zip
32-
```
29+
```bash
30+
wget https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/download/v3.3.0/hifi-human-wgs-singleton.zip
31+
wget https://github.com/PacificBiosciences/HiFi-human-WGS-WDL/releases/download/v3.3.0/hifi-human-wgs-family.zip
32+
```
3333

3434
2) Clone the repository and initialize the submodules:
3535

36-
```bash
37-
git clone \
38-
--depth 1 --branch v3.2.1 \
39-
--recursive \
40-
https://github.com/PacificBiosciences/HiFi-human-WGS-WDL.git
41-
```
36+
```bash
37+
git clone \
38+
--depth 1 --branch v3.3.0 \
39+
https://github.com/PacificBiosciences/HiFi-human-WGS-WDL.git
40+
```
4241

4342
## Resource requirements
4443

4544
The most resource-heavy step in the workflow requires 64 cpu cores and 256 GB of RAM. Ensure that the backend environment you're using has enough quota to run the workflow.
4645

47-
On some backends, you may be able to make use of a GPU to accelerate the DeepVariant step. The GPU is not required, but it can significantly speed up the workflow. If you have access to a GPU, you can set the `gpu` parameter to `true` in the inputs JSON file.
46+
On some backends, you may be able to make use of a GPU to accelerate the DeepVariant step.The GPU is not required, but it can significantly speed up the workflow. If you have access to a GPU, you can set the `gpu` parameter to `true` in the inputs JSON file.
4847

4948
## Reference datasets and associated workflow files
5049

@@ -96,7 +95,7 @@ The input to a workflow run is defined in JSON format. Template input files with
9695

9796
Using the appropriate inputs template file, fill in the cohort and sample information (see [Workflow Inputs](#workflow-inputs) for more information on the input structure).
9897

99-
If using an HPC backend, you will need to download the reference bundle and replace the `<local_path_prefix>` in the input template file with the local path to the reference datasets on your HPC. If using Amazon HealthOmics, you will need to download the reference bundle, upload it to your S3 bucket, and adjust paths accordingly.
98+
If using an HPC backend, you will need to download the reference bundle and replace the `<local_path_prefix>` in the input template file with the local path to the reference datasets on your HPC. If using Amazon HealthOmics, you will need to download the reference bundle, upload it to your S3 bucket, and adjust paths accordingly.
10099

101100
### Running the workflow
102101

backends/aws-healthomics/family.healthomics.inputs.json

Lines changed: 3 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -16,9 +16,11 @@
1616
]
1717
},
1818
"humanwgs_family.phenotypes": "String? (optional)",
19+
"humanwgs_family.use_gpu": false,
20+
"humanwgs_family.use_parabricks_deepvariant": false,
1921
"humanwgs_family.ref_map_file": "s3://<bucket_path>/GRCh38.ref_map.v3p1p0.aws.tsv",
2022
"humanwgs_family.tertiary_map_file": "s3://<bucket_path>/GRCh38.tertiary_map.v3p1p0.aws.tsv",
2123
"humanwgs_family.backend": "AWS-HealthOmics",
2224
"humanwgs_family.container_registry": "String",
2325
"humanwgs_family.preemptible": true
24-
}
26+
}

backends/aws-healthomics/singleton.healthomics.inputs.json

Lines changed: 3 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -6,9 +6,11 @@
66
],
77
"humanwgs_singleton.fail_reads": "Array[File]? (optional)",
88
"humanwgs_singleton.phenotypes": "String? (optional)",
9+
"humanwgs_singleton.use_gpu": false,
10+
"humanwgs_singleton.use_parabricks_deepvariant": false,
911
"humanwgs_singleton.ref_map_file": "s3://<bucket_path>/GRCh38.ref_map.v3p1p0.aws.tsv",
1012
"humanwgs_singleton.tertiary_map_file": "s3://<bucket_path>/GRCh38.tertiary_map.v3p1p0.aws.tsv",
1113
"humanwgs_singleton.backend": "AWS-HealthOmics",
1214
"humanwgs_singleton.container_registry": "String",
1315
"humanwgs_singleton.preemptible": true
14-
}
16+
}

backends/azure/family.azure.inputs.json

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -20,4 +20,4 @@
2020
"humanwgs_family.tertiary_map_file": "https://<prefix>/hifi-wdl-resources-v3.1.0/GRCh38.tertiary_map.v3p1p0.azure.tsv",
2121
"humanwgs_family.backend": "Azure",
2222
"humanwgs_family.preemptible": "Boolean"
23-
}
23+
}

backends/azure/singleton.azure.inputs.json

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -10,4 +10,4 @@
1010
"humanwgs_singleton.tertiary_map_file": "https://<prefix>/hifi-wdl-resources-v3.0.0/GRCh38.tertiary_map.v3p1p0.azure.tsv",
1111
"humanwgs_singleton.backend": "Azure",
1212
"humanwgs_singleton.preemptible": "Boolean"
13-
}
13+
}

0 commit comments

Comments
 (0)