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14 changes: 13 additions & 1 deletion CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -3,16 +3,28 @@
The format is based on [Keep a Changelog](https://keepachangelog.com/en/1.0.0/)
and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0.html).

## 2.2.0 - Dogmatix [XXXX-XX-XX]
## 2.2.0dev - Dogmatix [XXXX-XX-XX]

### `Added`

- Two new parameters `mbuffer_mem` and `samtools_sort_threads` to control resources given to mbuffer and samtools sort in the bwameme module [#570](https://github.com/nf-core/raredisease/pull/570)

### `Changed`

- `readcount_intervals` parameter is now mandatory for running germlinecnvcaller. [#570](https://github.com/nf-core/raredisease/pull/570)

### `Fixed`

- Docker manifest error from gnu-wget container [#570](https://github.com/nf-core/raredisease/pull/570)
- Citations for bwameme [#563](https://github.com/nf-core/raredisease/pull/563)

### Parameters

| Old parameter | New parameter |
| ------------- | --------------------- |
| | mbuffer_mem |
| | samtools_sort_threads |

## 2.1.0 - Obelix [2024-05-29]

### `Added`
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15 changes: 0 additions & 15 deletions conf/modules/prepare_references.config
Original file line number Diff line number Diff line change
Expand Up @@ -124,19 +124,4 @@ process {
ext.when = { (params.vep_cache && params.vep_cache.endsWith("tar.gz")) }
}

withName: '.*PREPARE_REFERENCES:GATK_PREPROCESS_WGS' {
ext.args = { [
'--padding 0',
'--interval-merging-rule OVERLAPPING_ONLY',
"--exclude-intervals ${params.mito_name}",
"--tmp-dir ./"
].join(' ') }
ext.when = { params.analysis_type.equals("wgs") && !params.readcount_intervals }
}

withName: '.*PREPARE_REFERENCES:GATK_PREPROCESS_WES' {
ext.args = { "--bin-length 0 --interval-merging-rule OVERLAPPING_ONLY --exclude-intervals ${params.mito_name}" }
ext.when = { params.analysis_type.equals("wes") && !params.readcount_intervals }
}

}
10 changes: 6 additions & 4 deletions docs/usage.md
Original file line number Diff line number Diff line change
Expand Up @@ -215,14 +215,16 @@ The mandatory and optional parameters for each category are tabulated below.

##### 6. Copy number variant calling

| Mandatory | Optional |
| ------------------------------ | ------------------------------- |
| ploidy_model<sup>1</sup> | readcount_intervals<sup>3</sup> |
| gcnvcaller_model<sup>1,2</sup> | |
| Mandatory | Optional |
| --------------------------------- | -------- |
| ploidy_model<sup>1,4</sup> | |
| gcnvcaller_model<sup>1,2,4</sup> | |
| readcount_intervals<sup>3,4</sup> | |

<sup>1</sup> Output from steps 3 & 4 of GATK's CNV calling pipeline run in cohort mode as described [here](https://gatk.broadinstitute.org/hc/en-us/articles/360035531152--How-to-Call-common-and-rare-germline-copy-number-variants).<br />
<sup>2</sup> Sample file can be found [here](https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/gcnvmodels.tsv) (Note the header 'models' in the sample file).<br />
<sup>3</sup> Output from step 1 of GATK's CNV calling pipeline as described [here](https://gatk.broadinstitute.org/hc/en-us/articles/360035531152--How-to-Call-common-and-rare-germline-copy-number-variants).<br />
<sup>4</sup> All these files can be generated using the germlinecnvcaller tool option in nf-core/createpanelrefs.<br />

##### 7. SNV annotation & Ranking

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7 changes: 1 addition & 6 deletions modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -82,7 +82,7 @@
},
"bwameme/mem": {
"branch": "master",
"git_sha": "79480293280ff4f10f30bdea1ddd903f223f8489",
"git_sha": "0aa157a00b54bcbe2c50be375cafd68d928e7f4d",
"installed_by": ["modules"]
},
"cadd": {
Expand Down Expand Up @@ -206,11 +206,6 @@
"git_sha": "cf607b7749da0a8f5ca2a1e31233e13e3159e2fe",
"installed_by": ["modules"]
},
"gatk4/preprocessintervals": {
"branch": "master",
"git_sha": "d742e3143f2ccb8853c29b35cfcf50b5e5026980",
"installed_by": ["modules"]
},
"gatk4/printreads": {
"branch": "master",
"git_sha": "d742e3143f2ccb8853c29b35cfcf50b5e5026980",
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4 changes: 2 additions & 2 deletions modules/local/get_chrom_sizes.nf
Original file line number Diff line number Diff line change
Expand Up @@ -4,8 +4,8 @@ process GET_CHROM_SIZES {

conda "conda-forge::coreutils=8.31"
container "${ workflow.containerEngine == 'singularity' && !task.ext.singularity_pull_docker_container ?
'https://depot.galaxyproject.org/singularity/gnu-wget:1.18--0' :
'biocontainers/gnu-wget:1.18--0' }"
'https://depot.galaxyproject.org/singularity/gnu-wget:1.18--h36e9172_9' :
'biocontainers/gnu-wget:1.18--h36e9172_9' }"

input:
tuple val(meta), path(fai)
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4 changes: 2 additions & 2 deletions modules/local/rename_align_files.nf
Original file line number Diff line number Diff line change
Expand Up @@ -4,8 +4,8 @@ process RENAME_ALIGN_FILES {

conda "conda-forge::coreutils=8.31"
container "${ workflow.containerEngine == 'singularity' && !task.ext.singularity_pull_docker_container ?
'https://depot.galaxyproject.org/singularity/gnu-wget:1.18--0' :
'biocontainers/gnu-wget:1.18--0' }"
'https://depot.galaxyproject.org/singularity/gnu-wget:1.18--h36e9172_9' :
'biocontainers/gnu-wget:1.18--h36e9172_9' }"

input:
tuple val(meta), path(input)
Expand Down
22 changes: 15 additions & 7 deletions modules/nf-core/bwameme/mem/main.nf

Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.

6 changes: 6 additions & 0 deletions modules/nf-core/bwameme/mem/meta.yml

Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.

20 changes: 15 additions & 5 deletions modules/nf-core/bwameme/mem/tests/main.nf.test

Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.

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