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Merge pull request #4 from d3b-center/bug-fix/mb-update-auotpvs1
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🔧 Bug fix auotpvs1
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migbro authored Aug 31, 2023
2 parents c4362a5 + 850310f commit daa85e9
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6 changes: 3 additions & 3 deletions README.md
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# Pathogenicity Preprocessing Workflow

## Prequisite
It is recommended to have first run the [Kids First Germline Annotation Workflow](https://github.com/kids-first/kf-germline-workflow/blob/v0.4.4/docs/GERMLINE_SNV_ANNOT_README.md) first.
It is recommended to have first run the [Kids First Germline Annotation Workflow](https://github.com/kids-first/kf-germline-workflow/blob/v1.0.0/docs/GERMLINE_SNV_ANNOT_README.md) first.

## Pathogenicity Preprocessing Workflow
This workflow uses the prerequisite input to run the InterVar workflow and autoPVS1 tool.
The major pieces of software being used are:
- ANNOVAR latest: The software has no versioning, but references do. See `annovar_db` section in [Recommended inputs](#recommended-inputs)
- InterVar v2.2.1
- AutoPVS1 v1.0.1: Modified from AutoPVS1 v2.0 to fit annotated KF vcf output. See [README for autoPVS1](https://github.com/d3b-center/D3b-autoPVS1/tree/v1.0.0#readme) for details
- AutoPVS1 v2.0.0: Modified from AutoPVS1 v2.0 to fit annotated KF vcf output. See [README for autoPVS1](https://github.com/d3b-center/D3b-autoPVS1/tree/v2.0.0#readme) for details
### Recommended inputs:
- `annovar_db`: ANNOVAR Database with at minimum required resources to InterVar. Need to use [ANNOVAR download commands](https://annovar.openbioinformatics.org/en/latest/user-guide/download/) to get the following:
```
Expand Down Expand Up @@ -80,4 +80,4 @@ This workflow is a critical component in generating scoring metrics needed to cl
Documentation for this can be found [here](docs/INTERVAR_WF.md)
### AutoPVS1
An additional pathogenicity scoring tool, run on the VEP-annotated input.
Documentation for this can be found [here](https://github.com/d3b-center/D3b-autoPVS1/tree/v1.0.0#readme)
Documentation for this can be found [here](https://github.com/d3b-center/D3b-autoPVS1/tree/v2.0.0#readme)
4 changes: 2 additions & 2 deletions tools/autopvs1.cwl
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Expand Up @@ -11,7 +11,7 @@ requirements:
ramMin: 16000
coresMin: 8
- class: DockerRequirement
dockerPull: 'pgc-images.sbgenomics.com/d3b-bixu/autopvs1:v1.0.1'
dockerPull: 'pgc-images.sbgenomics.com/d3b-bixu/autopvs1:v2.0.0'

baseCommand: []
arguments:
Expand All @@ -35,7 +35,7 @@ arguments:
inputs:
autopvs1_db: { type: File, doc: "Annovar Database with at minimum required resources to InterVar", inputBinding: { position: 0 }}
autopvs1_db_str: { type: 'string?', doc: "Name of dir created when annovar db is un-tarred", inputBinding: { position: 1, prefix: "--data_dir" }, default: "data"}
vep_vcf: { type: File, doc: "VEP annotated input file", inputBinding: { position: 2, prefix: "--vep_vcf"} }
vep_vcf: { type: File, doc: "VEP annotated input file", inputBinding: { position: 2, prefix: "--vep_vcf"}, secondaryFiles: ['.tbi']}
genome_version: { type: ['null', { type: enum, symbols: ["hg38","GRCh38"], name: "genome_version" } ], doc: "Genome reference build version",
default: "hg38", inputBinding: { position: 2, prefix: "--genome_version" } }
output_basename: { type: string, doc: "String that will be used in the output filenames" }
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4 changes: 2 additions & 2 deletions workflows/d3b-diskin-pathogenicity-preprocess-wf.cwl
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Expand Up @@ -13,7 +13,7 @@ doc: |-
The major pieces of software being used are:
- ANNOVAR latest: The software has no versioning, but references do. See `annovar_db` section in [Recommended inputs](#recommended-inputs)
- InterVar v2.2.1
- AutoPVS1 v1.0.1: Modified from the original to fit annotated KF vcf output. See [README for autoPVS1](https://github.com/d3b-center/D3b-autoPVS1/tree/v1.0.0#readme) for details
- AutoPVS1 v2.0.0: Modified from the original to fit annotated KF vcf output. See [README for autoPVS1](https://github.com/d3b-center/D3b-autoPVS1/tree/v2.0.0#readme) for details
### Recommended inputs:
- `annovar_db`: ANNOVAR Database with at minimum required resources to InterVar. Need to use [ANNOVAR download commands](https://annovar.openbioinformatics.org/en/latest/user-guide/download/) to get the following:
```
Expand Down Expand Up @@ -166,7 +166,7 @@ hints:
- class: sbg:maxNumberOfParallelInstances
value: 2
"sbg:links":
- id: 'https://github.com/d3b-center/D3b-Pathogenicity-Preprocessing/releases/tag/v1.0.0'
- id: 'https://github.com/d3b-center/D3b-Pathogenicity-Preprocessing/releases/tag/v1.0.1'
label: github-release
sbg:license: Apache License 2.0
sbg:publisher: KFDRC

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