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--- | ||
title: Acknowledgements | ||
description: Acknowledgements | ||
sidebar_position: 10 | ||
--- | ||
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The following resources were produced using data from the [All of Us Research Program](https://allofus.nih.gov/) | ||
and have been approved by the Program for public dissemination: | ||
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* Genotype filtering model: "aou_recalibrate_gq_model_file" in "inputs/values/resources_hg38.json" | ||
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The All of Us Research Program is supported by the National Institutes of Health, Office of the Director: Regional | ||
Medical Centers: 1 OT2 OD026549; 1 OT2 OD026554; 1 OT2 OD026557; 1 OT2 OD026556; 1 OT2 OD026550; 1 OT2 OD 026552; 1 | ||
OT2 OD026553; 1 OT2 OD026548; 1 OT2 OD026551; 1 OT2 OD026555; IAA #: AOD 16037; Federally Qualified Health Centers: | ||
HHSN 263201600085U; Data and Research Center: 5 U2C OD023196; Biobank: 1 U24 OD023121; The Participant Center: U24 | ||
OD023176; Participant Technology Systems Center: 1 U24 OD023163; Communications and Engagement: 3 OT2 OD023205; 3 OT2 | ||
OD023206; and Community Partners: 1 OT2 OD025277; 3 OT2 OD025315; 1 OT2 OD025337; 1 OT2 OD025276. In addition, the All | ||
of Us Research Program would not be possible without the partnership of its participants. |
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{ | ||
"label": "Advanced Guides", | ||
"position": 8, | ||
"position": 9, | ||
"link": { | ||
"type": "generated-index" | ||
} | ||
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--- | ||
title: Building reference panels | ||
description: Building reference panels for the single-sample pipeline | ||
sidebar_position: 4 | ||
slug: build_ref_panel | ||
--- | ||
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A custom reference panel for the [single-sample mode](/docs/gs/calling_modes#single-sample-mode) can be generated most easily using the | ||
[GATKSVPipelineBatch](https://github.com/broadinstitute/gatk-sv/blob/main/wdl/GATKSVPipelineBatch.wdl) workflow. | ||
This must be run on a standalone Cromwell server, as the workflow is unstable on Terra. | ||
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:::note | ||
Reference panels can also be generated by running the pipeline through joint calling on Terra, but there is | ||
currently no solution for automatically updating inputs. | ||
::: | ||
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We recommend copying the outputs from a Cromwell run to a permanent location by adding the following option to | ||
the workflow configuration file: | ||
``` | ||
"final_workflow_outputs_dir" : "gs://my-outputs-bucket", | ||
"use_relative_output_paths": false, | ||
``` | ||
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Here is an example of how to generate workflow input jsons from `GATKSVPipelineBatch` workflow metadata: | ||
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1. Get metadata from Cromwshell. | ||
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```shell | ||
cromshell -t60 metadata 38c65ca4-2a07-4805-86b6-214696075fef > metadata.json | ||
``` | ||
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2. Run the script. | ||
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```shell | ||
python scripts/inputs/create_test_batch.py \ | ||
--execution-bucket gs://my-exec-bucket \ | ||
--final-workflow-outputs-dir gs://my-outputs-bucket \ | ||
metadata.json \ | ||
> inputs/values/my_ref_panel.json | ||
``` | ||
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3. Build test files for batched workflows (google cloud project id required). | ||
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```shell | ||
python scripts/inputs/build_inputs.py \ | ||
inputs/values \ | ||
inputs/templates/test \ | ||
inputs/build/my_ref_panel/test \ | ||
-a '{ "test_batch" : "ref_panel_1kg" }' | ||
``` | ||
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4. Build test files for the single-sample workflow | ||
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```shell | ||
python scripts/inputs/build_inputs.py \ | ||
inputs/values \ | ||
inputs/templates/test/GATKSVPipelineSingleSample \ | ||
inputs/build/NA19240/test_my_ref_panel \ | ||
-a '{ "single_sample" : "test_single_sample_NA19240", "ref_panel" : "my_ref_panel" }' | ||
``` | ||
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5. Build files for a Terra workspace. | ||
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```shell | ||
python scripts/inputs/build_inputs.py \ | ||
inputs/values \ | ||
inputs/templates/terra_workspaces/single_sample \ | ||
inputs/build/NA12878/terra_my_ref_panel \ | ||
-a '{ "single_sample" : "test_single_sample_NA12878", "ref_panel" : "my_ref_panel" }' | ||
``` | ||
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Note that the inputs to `GATKSVPipelineBatch` may be used as resources | ||
for the reference panel and therefore should also be in a permanent location. |
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...docs/advanced/development/_category_.json → ...te/docs/advanced/cromwell/_category_.json
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4 changes: 2 additions & 2 deletions
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...ite/docs/advanced/development/cromwell.md → website/docs/advanced/cromwell/overview.md
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website/docs/gs/quick_start.md → ...ite/docs/advanced/cromwell/quick_start.md
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--- | ||
title: Best Practices Guide | ||
description: Guide for using GATK-SV | ||
sidebar_position: 4 | ||
--- | ||
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A comprehensive guide for the single-sample calling mode is available in [GATK Best Practices for Structural Variation | ||
Discovery on Single Samples](https://gatk.broadinstitute.org/hc/en-us/articles/9022653744283-GATK-Best-Practices-for-Structural-Variation-Discovery-on-Single-Samples). | ||
This material covers basic concepts of structural variant calling, specifics of SV VCF formatting, and | ||
advanced troubleshooting that also apply to the joint calling mode as well. This guide is intended to supplement | ||
documentation found here. | ||
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Users should also review the [Getting Started](/docs/gs/overview) section before attempting to perform SV calling. | ||
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The following sections also contain recommendations pertaining to data and call set QC: | ||
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- Preliminary sample QC in the [EvidenceQc module](/docs/modules/eqc#preliminary-sample-qc). | ||
- Assessment of completed call sets can be found on the [MainVcfQc module page](/docs/modules/mvqc). |
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website/docs/run/_category_.json → website/docs/execution/_category_.json
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{ | ||
"label": "Run", | ||
"label": "Execution", | ||
"position": 4, | ||
"link": { | ||
"type": "generated-index" | ||
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