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v2 release #136

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merged 77 commits into from
Nov 5, 2024
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6da8b24
switching to branch with altered history
williamrowell Dec 14, 2023
34611c8
feat: Update pbmm2 to 1.13.1
williamrowell Dec 14, 2023
9f5e7f1
feat: Update TRGT to 0.7.0
williamrowell Dec 14, 2023
bc5aad1
update wdl-ci config file after successful tests
github-actions[bot] Dec 14, 2023
99ce197
feat: Updated Paraphase to 3.0.0
williamrowell Dec 14, 2023
45d3684
update wdl-ci config file after successful tests
github-actions[bot] Dec 14, 2023
d2d320d
update wdl-ci config file after successful tests
github-actions[bot] Dec 15, 2023
6c591c0
feat: Update to DeepVariant 1.6.0
williamrowell Dec 15, 2023
626be95
update wdl-ci config file after successful tests
github-actions[bot] Dec 15, 2023
3bfbe54
update wdl-ci config file after successful tests
github-actions[bot] Dec 15, 2023
4b7151a
update wdl-ci config file after successful tests
github-actions[bot] Dec 15, 2023
202abc4
fix: Handle missing output for paraphase.
williamrowell Dec 15, 2023
b80c410
update wdl-ci config file after successful tests
github-actions[bot] Dec 15, 2023
517d1f1
feat(trgt): Updated to TRGT 0.8.0
williamrowell Feb 14, 2024
bbb43bb
update wdl-ci config file after successful tests
github-actions[bot] Feb 16, 2024
078a083
Updated license year.
williamrowell Feb 20, 2024
15c972b
docs: Described restrictions on sample_id and cohort_id.
williamrowell Feb 20, 2024
3363659
docs: Noted that only DeepVariant 1.6 is supported.
williamrowell Feb 20, 2024
37327b7
fix: Change submodule url to relative.
williamrowell Feb 20, 2024
aeb7ca3
Renamed Cohort structs to Family for clarification. Removed Referenc…
williamrowell Apr 23, 2024
543380f
Grouped tasks upstream of phasing into new "upstream" subworkflow.
williamrowell Apr 23, 2024
a438acf
Grouped joint-calling tasks into new "joint" subworkflow.
williamrowell Apr 23, 2024
6657848
Grouped per-sample tasks downstream of phasing into new "downstream" …
williamrowell Apr 23, 2024
1eac29f
Refactored tertiary analysis workflow to fit new structure.
williamrowell Apr 23, 2024
76dbdd2
Removed old workflow structure and replaced with two new workflows:
williamrowell Apr 23, 2024
672f478
Updated documentation.
williamrowell Jul 11, 2024
51a548e
- whitespace formatting changes
williamrowell Jul 11, 2024
8372691
Support AWS-HealthOmics by:
williamrowell Jul 11, 2024
c88413c
Update tertiary to use CoLoRsDB and gnomAD v4.
williamrowell Jul 11, 2024
d997219
Update dockstore.yml to support both entrypoints.
williamrowell Jul 11, 2024
2a44861
Tidy flowchart ids.
williamrowell Jul 11, 2024
152924d
Update docs for v2.
williamrowell Jul 12, 2024
be93caf
Fix dead link in README
williamrowell Jul 12, 2024
2af9fee
Fixed paths in gcp inputs.
williamrowell Jul 12, 2024
c06f6b9
Fix hpc inputs urls.
williamrowell Jul 12, 2024
23b3200
Fixed parameter_meta var names.
williamrowell Aug 10, 2024
699da12
Add mosdepth bed index to outputs.
williamrowell Aug 10, 2024
d58b78c
Add default phenotype. Add trgt merging for family.
williamrowell Aug 10, 2024
31492f6
Explicitly set min_gq as string.
williamrowell Aug 10, 2024
2c90255
Add default phenotype. Add trgt merging for family.
williamrowell Aug 10, 2024
02aa20a
Update submodule.
williamrowell Aug 10, 2024
49d5f75
Moved example backend inputs to separate folder, since most docs will…
williamrowell Aug 10, 2024
e790ada
Added file_io.allow_any_input to support ref_map and tertiary_map.
williamrowell Aug 10, 2024
3489ddf
Updated docs, changed links based on wiki root.
williamrowell Aug 10, 2024
8bb257a
Updated readme.
williamrowell Aug 10, 2024
4d760b8
Update PharmCAT to v2.15.0 and parameterize PharmCAT version.
williamrowell Aug 13, 2024
944ec6d
Add VCF indices to trgt merge call.
williamrowell Aug 13, 2024
740730c
Remove old graphviz.
williamrowell Aug 13, 2024
b801304
Increasing memory for postprocess_variants.
williamrowell Aug 13, 2024
0747310
Updated paths in input templates. Added examples for ref_map and ter…
williamrowell Aug 13, 2024
4728287
Updated docs with Zenodo bundle.
williamrowell Aug 13, 2024
8a077e9
Sort input templates in a more logical order, with variable inputs at…
williamrowell Aug 22, 2024
ddac75f
Sort input templates in a more logical order, with variable inputs at…
williamrowell Aug 22, 2024
b4e3cc1
Add trgt merge to docs.
williamrowell Aug 27, 2024
e0be78a
Update submodule.
williamrowell Sep 4, 2024
93fe4ab
Update pbstarphase to 0.14.1
williamrowell Sep 4, 2024
82b96e6
Refactor function to get pbsv splits.
williamrowell Sep 4, 2024
1570477
Provide output names to split_vcf_by_sample to support Terra.
williamrowell Sep 4, 2024
8f835fe
Modify write_ped_phrank to accept more uniform input from singleton a…
williamrowell Sep 4, 2024
f230eb2
Updated README with new version.
williamrowell Sep 5, 2024
b03f107
Updated submodule.
williamrowell Oct 15, 2024
0029b9e
Added new aligned distribution plot. Changed mapped_fraction to mapp…
williamrowell Oct 15, 2024
c947cac
Added pedigree PED file to tertiary output.
williamrowell Oct 15, 2024
d4ed40e
Removed unnecessary pharmcat outputs.
williamrowell Oct 15, 2024
7f05659
Allow family.wdl entrypoint to work with single sample (singleton) in…
williamrowell Oct 15, 2024
9e44338
Updated slivar version.
williamrowell Oct 15, 2024
54fb5c6
Updated several outputs keys and filenames for clarity and better fil…
williamrowell Oct 15, 2024
e54d0ea
Updated submodule.
williamrowell Nov 2, 2024
1e43992
Added plots and high level stats outputs.
williamrowell Nov 2, 2024
6e7a6f8
Compressing and indexing cpg pileup bed to save space.
williamrowell Nov 2, 2024
fa594aa
Change svpack syntax to allow for compressed GFFs
williamrowell Nov 2, 2024
79fa443
AWS HealthOmics support with a script to deploy container images to y…
williamrowell Nov 2, 2024
ff82ae7
Modifying write_ped_phrank calls for better compatibility with Health…
williamrowell Nov 2, 2024
fae5e45
Updates to tool and resource versions:
williamrowell Nov 2, 2024
17c2445
Updated ref_map, tertiary_map, and input templates.
williamrowell Nov 2, 2024
7d9400e
Rename cpg_pileup outputs for clarity.
williamrowell Nov 4, 2024
3f2dc09
Improve depth distribution ylabel.
williamrowell Nov 4, 2024
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82 changes: 30 additions & 52 deletions .dockstore.yml
Original file line number Diff line number Diff line change
@@ -1,69 +1,47 @@
# The first line refers to the version 1.2 of the .dockstore.yml schema
version: 1.2

# An array of workflows. Each element corresponds to a workflow on Dockstore.
workflows:

# The optional workflow name for a workflow, which may only consist of alphanumerics
# and internal underscores and hyphens, but no spaces or other characters. Names may not exceed 256 characters.
# If using a .dockstore.yml with multiple workflows, this field is required
# to uniquely identify workflows in the repository.
#
# It should be noted that having the name come first is an arbitrary decision.
# You could use subclass instead, for instance. Provided arrays are not broken
# up, the order of fields within a .dockstore.yml is not important.
- name: HiFi-human-WGS-WDL

# The descriptor language used for the workflow. CWL, WDL, NFL (Nextflow), or GALAXY.
# This cannot be changed once the workflow is registered.
subclass: WDL

# Workflow-wide setting that will affect ALL branches/tags; only set this as needed in a main branch.
# Set to true to publish an unpublished workflow, or false to unpublish a published workflow.
# Omitting the publish setting leaves the publish-state unchanged (recommended for all non-primary branches).
# publish: <Boolean>

# The absolute path to the primary descriptor file in the Git repository.
# - For CWL, the primary descriptor is a .cwl file.
# - For WDL, the primary descriptor is a .wdl file.
# - For Galaxy, the primary descriptor is a .ga file.
# - Nextflow differs from these as the primary descriptor is a nextflow.config file.
primaryDescriptorPath: /workflows/main.wdl

# An optional array of absolute paths to test parameter files in the Git repository.
# For example...
# testParameterFiles:
# - /null-model/null-model.json
# - /null-model/null-model-binary.json
# testParameterFiles: <String Array>

# An optional path to a workflow-specific readme in the Git repository. If not provided, Dockstore will show
# the readme.md present at the root of the Git repository if it is present.
# If you have multiple workflows in a single Git repository, it is recommend to give each one a readme.
readMePath: /README.md

# An optional array of authorship information.
# Note that if orcid is present, then all other fields will be ignored, as information will be taken from orcid.
# If orcid is not present, make sure to at a minimum include the name field for each author.
authors:
- orcid: 0000-0001-5921-2022 # Juniper Lake
- orcid: 0000-0001-7628-5645 # Gregory Concepcion
- orcid: 0000-0003-1183-0432 # Aaron Wenger
- orcid: 0000-0002-7422-1194 # William Rowell
- orcid: 0000-0002-5507-0896 # Heather Ward
- orcid: 0009-0001-0205-4614 # Karen Fang

# A boolean that will change the default version to be displayed on Dockstore. Default: False.
# A value of true will automatically display the latest tag updated as default.
# A value of false will retain the default version that has been specified via the Dockstore UI.
latestTagAsDefault: False

# The optional filters section allow specifying sets of Git branches and tags to include for the workflow.
# If no filters are given, all branches and tags are included.
# Branches and tags are arrays of pattern-strings.
# Pattern-strings use Unix-style Glob syntax by default (Ex: `develop`, `myworkflow/**`)
# https://docs.oracle.com/en/java/javase/11/docs/api/java.base/java/nio/file/FileSystem.html#getPathMatcher(java.lang.String)
# or RegEx when the string is surrounded by / (Ex: `/develop/`, `/myworkflow\/.*/`).
filters:
tags: [ /v1\..*dockstore/ ]
- name: HiFi-human-WGS-WDL-singleton
subclass: WDL
primaryDescriptorPath: /workflows/singleton.wdl
readMePath: /docs/singleton.md
authors:
- orcid: 0000-0001-5921-2022 # Juniper Lake
- orcid: 0000-0001-7628-5645 # Gregory Concepcion
- orcid: 0000-0003-1183-0432 # Aaron Wenger
- orcid: 0000-0002-7422-1194 # William Rowell
- orcid: 0000-0002-5507-0896 # Heather Ward
- orcid: 0009-0001-0205-4614 # Karen Fang
latestTagAsDefault: False
filters:
branches: [ /.*dockstore/ ]
tags: [ /v.*dockstore/ ]
- name: HiFi-human-WGS-WDL-family
subclass: WDL
primaryDescriptorPath: /workflows/family.wdl
readMePath: /docs/family.md
authors:
- orcid: 0000-0001-5921-2022 # Juniper Lake
- orcid: 0000-0001-7628-5645 # Gregory Concepcion
- orcid: 0000-0003-1183-0432 # Aaron Wenger
- orcid: 0000-0002-7422-1194 # William Rowell
- orcid: 0000-0002-5507-0896 # Heather Ward
- orcid: 0009-0001-0205-4614 # Karen Fang
latestTagAsDefault: False
filters:
branches: [ /.*dockstore/ ]
tags: [ /v.*/ ]
tags: [ /v.*dockstore/ ]
2 changes: 1 addition & 1 deletion .gitmodules
Original file line number Diff line number Diff line change
@@ -1,3 +1,3 @@
[submodule "workflows/wdl-common"]
path = workflows/wdl-common
url = https://github.com/PacificBiosciences/wdl-common
url = ../wdl-common.git
12 changes: 12 additions & 0 deletions GRCh38.ref_map.v2p0p0.template.tsv
Original file line number Diff line number Diff line change
@@ -0,0 +1,12 @@
name GRCh38
fasta <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/human_GRCh38_no_alt_analysis_set.fasta
fasta_index <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/human_GRCh38_no_alt_analysis_set.fasta.fai
pbsv_splits <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/human_GRCh38_no_alt_analysis_set.pbsv_splits.json
pbsv_tandem_repeat_bed <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/human_GRCh38_no_alt_analysis_set.trf.bed
trgt_tandem_repeat_bed <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/trgt/human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed
hificnv_exclude_bed <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/hificnv/cnv.excluded_regions.common_50.hg38.bed.gz
hificnv_exclude_bed_index <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/hificnv/cnv.excluded_regions.common_50.hg38.bed.gz.tbi
hificnv_expected_bed_male <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/hificnv/expected_cn.hg38.XY.bed
hificnv_expected_bed_female <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/hificnv/expected_cn.hg38.XX.bed
pharmcat_positions_vcf <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/pharmcat/pharmcat_positions_2.15.4.vcf.bgz
pharmcat_positions_vcf_index <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/pharmcat/pharmcat_positions_2.15.4.vcf.bgz.csi
12 changes: 12 additions & 0 deletions GRCh38.tertiary_map.v2p0p0.template.tsv
Original file line number Diff line number Diff line change
@@ -0,0 +1,12 @@
slivar_js <prefix>/hifi-wdl-resources-v2.0.0/slivar/slivar-functions.v0.2.8.js
ensembl_gff <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/ensembl.GRCh38.101.reformatted.gff3.gz
lof_lookup <prefix>/hifi-wdl-resources-v2.0.0/slivar/lof_lookup.v2.1.1.txt
clinvar_lookup <prefix>/hifi-wdl-resources-v2.0.0/slivar/clinvar_gene_desc.20240624T165443.txt
slivar_gnotate_files <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/slivar_gnotate/gnomad.hg38.v4.1.custom.v1.zip,<prefix>/hifi-wdl-resources-v2.0.0/GRCh38/slivar_gnotate/CoLoRSdb.GRCh38.v1.1.0.deepvariant.glnexus.zip
slivar_gnotate_prefixes gnomad,colors
slivar_max_af 0.03
slivar_max_nhomalt 4
slivar_max_ac 4
slivar_min_gq 5
svpack_pop_vcfs <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz,<prefix>/hifi-wdl-resources-v2.0.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.1.0.pbsv.jasmine.vcf.gz
svpack_pop_vcf_indices <prefix>/hifi-wdl-resources-v2.0.0/GRCh38/sv_pop_vcfs/gnomad.v4.1.sv.sites.pass.vcf.gz.tbi,<prefix>/hifi-wdl-resources-v2.0.0/GRCh38/sv_pop_vcfs/CoLoRSdb.GRCh38.v1.1.0.pbsv.jasmine.vcf.gz.tbi
2 changes: 1 addition & 1 deletion LICENSE
Original file line number Diff line number Diff line change
@@ -1,4 +1,4 @@
Copyright (c) 2023, Pacific Biosciences of California, Inc.
Copyright (c) 2024, Pacific Biosciences of California, Inc.

All rights reserved.

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