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1 change: 1 addition & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -14,6 +14,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#231](https://github.com/nf-core/phaseimpute/pull/231) - Use "panel_id" instead of "id" in the meta map for the panel.
- [#226](https://github.com/nf-core/phaseimpute/pull/226) - Remove `BEDTOOLS` and update automated methods description.
- [#239](https://github.com/nf-core/phaseimpute/pull/239) - Move from local to nf-core sbwf for `STITCH` imputation. Set `--chunks` as optional argument. Update `usage.md`.
- [#240](https://github.com/nf-core/phaseimpute/pull/240) - Move from local to nf-core sbwf for `GLIMPSE2` imputation. Update `usage.md`.

### `Fixed`

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7 changes: 4 additions & 3 deletions conf/steps/imputation_glimpse2.config
Original file line number Diff line number Diff line change
Expand Up @@ -14,13 +14,13 @@ process {

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_VCF_IMPUTE_GLIMPSE2:.*' {
publishDir = [ enabled: false ]
tag = {"Batch ${meta.batch} ${meta.chr}"}
tag = {"Batch ${meta.batch} ${meta.regionout ?: meta.chr }"}
}

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_VCF_IMPUTE_GLIMPSE2:GLIMPSE2_PHASE' {
cache = "lenient"
ext.prefix = { "${meta.id}.batch${meta.batch}.${meta.chunk.replace(':','_')}.glimpse2" }
ext.args = { "--keep-monomorphic-ref-sites" }
ext.prefix = { "${meta.id}.batch${meta.batch}.${meta.regionout ? meta.regionout.replace(':','_') : meta.chr}.glimpse2" }
ext.args = { "--keep-monomorphic-ref-sites --seed ${params.seed}" }
ext.suffix = "bcf"
publishDir = [ enabled: false ]
}
Expand All @@ -31,6 +31,7 @@ process {
}

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_VCF_IMPUTE_GLIMPSE2:GLIMPSE2_LIGATE' {
ext.args = { "--seed ${params.seed}" }
ext.prefix = { "${meta.id}.batch${meta.batch}.${meta.chr}.ligate" }
publishDir = [ enabled: false ]
}
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4 changes: 2 additions & 2 deletions conf/steps/imputation_stitch.config
Original file line number Diff line number Diff line change
Expand Up @@ -28,12 +28,12 @@ process {

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_IMPUTE_STITCH:.*' {
publishDir = [enabled: false]
tag = {"Batch ${meta.batch} ${meta.chr}"}
tag = {"Batch ${meta.batch} ${meta.regionout ?: meta.chr}"}
}

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_IMPUTE_STITCH:STITCH' {
cache = "lenient"
ext.prefix = { "${meta.id}.batch${meta.batch}.${meta.regionout ? '.'+ meta.regionout : meta.chr}.stitch" }
ext.prefix = { "${meta.id}.batch${meta.batch}.${meta.regionout ? meta.regionout.replace(':','_') : meta.chr}.stitch" }
}

withName: 'NFCORE_PHASEIMPUTE:PHASEIMPUTE:BAM_IMPUTE_STITCH:BCFTOOLS_INDEX_1' {
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1 change: 1 addition & 0 deletions conf/test_glimpse2.config
Original file line number Diff line number Diff line change
Expand Up @@ -34,6 +34,7 @@ params {

// External params
chunks = "${projectDir}/tests/csv/chunks.csv"
map = "${projectDir}/tests/csv/map_glimpse.csv"

// Impute tools
tools = "glimpse2"
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9 changes: 8 additions & 1 deletion docs/usage.md
Original file line number Diff line number Diff line change
Expand Up @@ -446,7 +446,7 @@ Optionnaly you can provide the following flags:
| | `--steps impute`(m) | `--input`(m) | `--genome` or `--fasta`(m) | `--panel`(m) | `--posfile`(m) | `--map`(o) | `--chunks`(o) |
| ---------- | ------------------- | ------------ | -------------------------- | ------------ | -------------- | ---------- | ------------- |
| `GLIMPSE1` | ✅ | ✅ ¹ | ✅ | ✅ | ✅ ³ | ❌⁶ | ✅ |
| `GLIMPSE2` | ✅ | ✅ ¹ | ✅ | ✅ | ❌ | ❌⁶ | ✅ |
| `GLIMPSE2` | ✅ | ✅ ¹ | ✅ | ✅ | ❌ | | ✅ |
| `QUILT` | ✅ | ✅ ² | ✅ | ❌ | ✅ ⁴ | ❌⁶ | ✅ |
| `STITCH` | ✅ | ✅ ² | ✅ | ❌ | ✅ ³ | ✅ | ✅ |
| `BEAGLE5` | ✅ | ✅ ¹ | ✅ | ✅ | ❌ | ❌⁶ | ❌⁶ |
Expand Down Expand Up @@ -635,6 +635,13 @@ nextflow run nf-core/phaseimpute \

Make sure the CSV file with the input panel is the output from `--step panelprep` or has been previously prepared.

You can optionally provide chunks to parallelize the imputation process using `--chunks`.
If not provided the full region per chromosome will be used.
See [Chunks section](#samplesheet-chunks) for more information.

Genetic map can also be provided for better accuracy.
See [Map section](#samplesheet-map) for more information.

### BEAGLE5

[BEAGLE5](https://faculty.washington.edu/browning/beagle/beagle.html) is a software package for analyzing large-scale genetic
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26 changes: 18 additions & 8 deletions modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -24,7 +24,7 @@
"bcftools/index": {
"branch": "master",
"git_sha": "41dfa3f7c0ffabb96a6a813fe321c6d1cc5b6e46",
"installed_by": ["bam_impute_stitch", "modules"]
"installed_by": ["bam_impute_stitch", "bam_vcf_impute_glimpse2", "modules"]
},
"bcftools/merge": {
"branch": "master",
Expand Down Expand Up @@ -91,23 +91,28 @@
},
"glimpse2/chunk": {
"branch": "master",
"git_sha": "41dfa3f7c0ffabb96a6a813fe321c6d1cc5b6e46",
"installed_by": ["modules"]
"git_sha": "94a767478097e92dca1386ea623d9dae9edc025a",
"installed_by": ["bam_vcf_impute_glimpse2", "modules"]
},
"glimpse2/concordance": {
"branch": "master",
"git_sha": "41dfa3f7c0ffabb96a6a813fe321c6d1cc5b6e46",
"git_sha": "cc45bedccf632f7d21bc81dcced99a6870ff3127",
"installed_by": ["modules"]
},
"glimpse2/ligate": {
"branch": "master",
"git_sha": "41dfa3f7c0ffabb96a6a813fe321c6d1cc5b6e46",
"installed_by": ["bam_impute_stitch", "modules"]
"git_sha": "94a767478097e92dca1386ea623d9dae9edc025a",
"installed_by": ["bam_impute_stitch", "bam_vcf_impute_glimpse2", "modules"]
},
"glimpse2/phase": {
"branch": "master",
"git_sha": "41dfa3f7c0ffabb96a6a813fe321c6d1cc5b6e46",
"installed_by": ["modules"]
"git_sha": "94a767478097e92dca1386ea623d9dae9edc025a",
"installed_by": ["bam_vcf_impute_glimpse2", "modules"]
},
"glimpse2/splitreference": {
"branch": "master",
"git_sha": "94a767478097e92dca1386ea623d9dae9edc025a",
"installed_by": ["bam_vcf_impute_glimpse2"]
},
"gunzip": {
"branch": "master",
Expand Down Expand Up @@ -215,6 +220,11 @@
"git_sha": "31a8820de9546d701166413a81ce338f5c244550",
"installed_by": ["subworkflows"]
},
"bam_vcf_impute_glimpse2": {
"branch": "master",
"git_sha": "e337a1d89f92c31041e46dd1509beadce40cb5bb",
"installed_by": ["subworkflows"]
},
"utils_nextflow_pipeline": {
"branch": "master",
"git_sha": "05954dab2ff481bcb999f24455da29a5828af08d",
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30 changes: 15 additions & 15 deletions modules/nf-core/glimpse2/chunk/main.nf

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2 changes: 1 addition & 1 deletion modules/nf-core/glimpse2/chunk/tests/main.nf.test

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8 changes: 4 additions & 4 deletions modules/nf-core/glimpse2/chunk/tests/main.nf.test.snap

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8 changes: 4 additions & 4 deletions modules/nf-core/glimpse2/chunk/tests/nextflow.config

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51 changes: 27 additions & 24 deletions modules/nf-core/glimpse2/concordance/main.nf

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