raredisease
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Patch
PR checklist
- [ ] This comment contains a description of changes (with reason).
- [ ] If you've fixed a bug or added code that should be tested, add tests!
- [ ] If you've added a new tool - have you followed the pipeline conventions in the contribution docs
- [ ] If necessary, also make a PR on the nf-core/raredisease branch on the nf-core/test-datasets repository.
- [ ] Make sure your code lints (
nf-core lint
). - [ ] Ensure the test suite passes (
nextflow run . -profile test,docker --outdir <OUTDIR>
). - [ ] Ensure the test suite passes (
nextflow run . -profile test_one_sample,docker --outdir <OUTDIR>
). - [ ] Check for unexpected warnings in debug mode (
nextflow run . -profile debug,test,docker --outdir <OUTDIR>
). - [ ] Usage Documentation in
docs/usage.md
is updated. - [ ] Output Documentation in
docs/output.md
is updated. - [ ]
CHANGELOG.md
is updated. - [ ]
README.md
is updated (including new tool citations and authors/contributors).
nf-core lint
overall result: Passed :white_check_mark: :warning:
Posted for pipeline commit 9da1d8d
+| ✅ 183 tests passed |+
#| ❔ 7 tests were ignored |#
!| ❗ 1 tests had warnings |!
:heavy_exclamation_mark: Test warnings:
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pipeline_todos - TODO string in
awsfulltest.yml
: You can customise AWS full pipeline tests as required
:grey_question: Tests ignored:
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.github/CONTRIBUTING.md
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assets/nf-core-raredisease_logo_light.png
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- modules_config - modules_config
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- nextflow_config - Config default value correct: params.bait_padding= 100
- nextflow_config - Config default value correct: params.genome= GRCh38
- nextflow_config - Config default value correct: params.mito_name= chrM
- nextflow_config - Config default value correct: params.analysis_type= wgs
- nextflow_config - Config default value correct: params.platform= illumina
- nextflow_config - Config default value correct: params.ngsbits_samplegender_method= xy
- nextflow_config - Config default value correct: params.skip_vcf2cytosure= true
- nextflow_config - Config default value correct: params.aligner= bwamem2
- nextflow_config - Config default value correct: params.min_trimmed_length= 40
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- nextflow_config - Config default value correct: params.cnvnator_binsize= 1000
- nextflow_config - Config default value correct: params.sentieon_dnascope_pcr_indel_model= CONSERVATIVE
- nextflow_config - Config default value correct: params.variant_caller= deepvariant
- nextflow_config - Config default value correct: params.variant_type= snp,indel
- nextflow_config - Config default value correct: params.vep_cache_version= 110
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- nextflow_config - Config default value correct: params.max_cpus= 16
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matches the template - actions_ci - '.github/workflows/ci.yml' is triggered on expected events
- actions_ci - '.github/workflows/ci.yml' checks minimum NF version
- actions_awstest - '.github/workflows/awstest.yml' is triggered correctly
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actions_awsfulltest -
.github/workflows/awsfulltest.yml
is triggered correctly -
actions_awsfulltest -
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does not use-profile test
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readme - README Nextflow minimum version badge matched config. Badge:
23.04.0
, Config:23.04.0
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base_config -
NFCORE_RAREDISEASE
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nfcore_yml - Repository type in
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is valid:pipeline
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nfcore_yml - nf-core version in
.nf-core.yml
is set to the latest version:2.14.1
Run details
- nf-core/tools version 2.14.1
- Run at
2024-05-17 08:44:15
The test profile works perfectly for this patch
branch on RHEL 9 and Fedora 39 with singularity and local executor (no executor/cluster setting). [I am testing 2.0.1 with a full-scale dataset and will also test the patch branch, if it can complete in time]
Hi! I am trying out running this patch PR on the dataset I have been running before (i.e. GIAB on our server).
I run into errors, trying to see whether they are on my part or in the code.
ERROR ~ Cannot get property 'case_id' on null object
-- Check script '<path>/raredisease/./workflows/raredisease.nf' at line: 166 or see '.nextflow.log' file for more details
ERROR ~ No such variable: Exception evaluating property 'gtbi' for nextflow.script.ChannelOut, Reason: groovy.lang.MissingPropertyException: No such property: gtbi for class: groovyx.gpars.dataflow.DataflowBroadcast
-- Check script '<path>/raredisease/./workflows/../subworkflows/local/call_snv.nf' at line: 77 or see '.nextflow.log' file for more details
In a quick look it indeed looks like there is a mismatch for the Sentieon workflow.
Here is what is asked for from the "parent" processes using the Sentieon SNV calling subprocess.
https://github.com/nf-core/raredisease/blob/d0b512be4b6c542fa8537ea508e7f931e4dab491/subworkflows/local/call_snv.nf#L77
Here are the emitted arguments. Maybe a typo for gvcf_tbi
?
https://github.com/nf-core/raredisease/blob/d0b512be4b6c542fa8537ea508e7f931e4dab491/subworkflows/local/variant_calling/call_snv_sentieon.nf#L124-L129
Need to run for a meeting now, will continue testing (and checking the case error) later today
Here are the emitted arguments. Maybe a typo for
gvcf_tbi
?
indeed looks like a typo. Thanks for testing and reporting
Quick update. I am running into more downstream issues, but I think these are on my side. I will continue working through the GIAB run and raise any issues I find, but will probably complete when you are done with this PR.
I would like to run the test data, but we have an offline-only server, and it is not feasible to pull all containers to my local computer.
I've tested the most recent version of this PR and I do get an error. I made a separate issue because I also get the error in pipeline version 2.0.x #542 . The error is this:
[a8/b58d57] NFCORE_RAREDISEASE:RAREDISEASE:CALL_MOBILE_ELEMENTS:ME_INDEX_SPLIT_ALIGNMENT (NA12878) [100%] 25 of 25, cached: 25 ✔
Join mismatch for the following entries:
- key=[id:NA12878, sample:NA12878, lane:1, sex:2, phenotype:2, paternal:0, maternal:0, case_id:NA12878, num_lanes:1, read_group:'@RG\tID:NA12878\tPL:illumina\tSM:NA12878', single_end:false, interval:chr13, nr_of_intervals:25] values=[/data0/paalmbj/na12878_med_pipeline/work/83/20f04adedf5dc4bb5ee4b6b85e262c/NA12878_chr13.bam, /data0/paalmbj/na12878_med_pipeline/work/d0/156dd6f94e30b5c404ec292aad5b8c/NA12878_chr13.bam.bai]