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Add CNV calling workflow to test profile #68

Merged
merged 3 commits into from
Apr 5, 2024
Merged

Add CNV calling workflow to test profile #68

merged 3 commits into from
Apr 5, 2024

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fellen31
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@fellen31 fellen31 commented Apr 4, 2024 •
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Closes #60.

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
  • Make sure your code lints (nf-core lint).
  • Ensure the test suite passes (nf-test test main.nf.test -profile test,docker).
  • 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).

@fellen31 fellen31 changed the title Add cnv calling workflow to test profile Add CNV calling workflow to test profile Apr 4, 2024
@fellen31 fellen31 marked this pull request as ready for review April 4, 2024 12:50
@fellen31 fellen31 requested a review from jemten as a code owner April 4, 2024 12:50
jemten
jemten approved these changes Apr 5, 2024
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Nice with more tests :)

@fellen31 fellen31 merged commit dce1800 into genomic-medicine-sweden:dev Apr 5, 2024
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@fellen31 fellen31 deleted the test_cnv_workflow branch April 5, 2024 09:03
fellen31 added a commit that referenced this pull request May 8, 2024
@fellen31 @jemten
@ramsainanduri @peterpru @pbiology
Release 0.1.0 (#90)
eda623d 
* Add methylation calls to bedmethyl

* Output whatshap stats, and add pipeline presets

* Fix mosdepth not running for all samples

* Fix methylation sample mix

* fix dipcall not working

* Add fastq and bam stats

* fix dipcall not working

* Rework modules and subworkflows to match new-found knowledge about single element channels

* Added TRGT for pacbio-data

* Fix repeat versions

* Fix samtools index publishdirs

* Add back --secondary=no to minimap2 align

* Fix cramino phased and unphased

* Update README.md

* Fix dipcall sample name in vcf

* Fix trgt container adress

* try again to fix trgt container adress

* remove TRVZ because it will create too many processes

* completely remove TRVZ

* update modules conf, missing output files, index bams and fix containers

* Fix minimap2 index always using default params

* minimap index needs to be built separate for dipcall as well

* tweak process requirements

* Improve whatshap phasing

* Add hiphase

* add missing bcftools modules

* Add samplesheet, extra_gcvf and extra_snfs validation

* update hifiasm

* completely remove PED and rely on samplesheet

* fix methylation bug

* update modkit, removes now unneccesary creation of haplotype bams

* Formatting, remove unneccessary inputs

* fix leftover flag in pileup

* Add skip for phasing and remove more PED references

* Simplify sniffles, and put back dipcall par

* Update README.md

* Add skip for QC

* Update hiphase output files

* Add hificnv to workflow

* nf-download not working..

* add config

* Add missing file column to snfs schema

* Add hificnv to workflow

* nf-download not working..

* add config

* Update README.md

Remove reference to ped-file

* Update README.md

* Update align.nf

If using BAM-files as input for pbmm2, then don't output those.

* Replaces pbmm2 with minimap2, using the nf-core modules

* Fix typo

* Add missing diff..linting fails because of the container URL, not sure how to fix?

* linting working for all but samtools/faidx

* Update README.md

* Added DeepTrio support (incl. GPU for both DV and DT), trios extractedfrom PED-file

* Update README.md

* Small clean up.

* Add deeptrio, GPU support and fastqc (should get better at keeping features separate)

* fix minimap2 singularity version

* Added dipcall

* Add dipcall as process

* Might have messed up git stash

* Rewrite fix_trio process in Groovy, add hifiasm-trio and dipcall

* Merge updated TEMPLATE

* Update modules after TEMPLATE upgrade

* More modules fixes to bring it closer to nf-core

* Prettier

* Replace fix_trio process for deeptrio input

* remove nf-core images and add pipeline summary

* Update README.md

* fix color

* Allow to skip either assembly or read_map calling

* Update docs

* Remove references to non-existing slack

* Add tandem-regions and reference back to sniffles + skip snv-calling

* reorganise publishdirs

* move yak-versions into trio workflow

* Fix non-trio hifiasm and add more rememberable skips

* Fix dipcall module?

* Update genome_assembly.nf

* See if this way works

* See if this way works-2

* See if this way works-3

* nf-core download would not pull docker image when the container is specified inside single quotes

* Update dipcall to use PED-file in non-trio mode

* Update base config to better represent needs

* Change hifiasm to nf-core module, but make it output lowQ beds as well

* add mosdepth

* fix dipcall bug

* Revert "fix dipcall bug"

This reverts commit 36b9768.

* Revert "Revert "fix dipcall bug"" - sorry git log

This reverts commit 713272e.

* Hope to have fixed all dipcall bugs - but need more testing

* Change local GLNexus to nf-core module

* Make tandem_repeats optional, since it might not be that great?

* Update README.md

* Add methylation calls to bedmethyl

* Output whatshap stats, and add pipeline presets

* Fix mosdepth not running for all samples

* Fix methylation sample mix

* fix dipcall not working

* Add fastq and bam stats

* fix dipcall not working

* Rework modules and subworkflows to match new-found knowledge about single element channels

* Added TRGT for pacbio-data

* Fix repeat versions

* Fix samtools index publishdirs

* Add back --secondary=no to minimap2 align

* Fix cramino phased and unphased

* Fix dipcall sample name in vcf

* Update README.md

* Fix trgt container adress

* try again to fix trgt container adress

* remove TRVZ because it will create too many processes

* completely remove TRVZ

* update modules conf, missing output files, index bams and fix containers

* Fix minimap2 index always using default params

* minimap index needs to be built separate for dipcall as well

* tweak process requirements

* Improve whatshap phasing

* Add hiphase

* add missing bcftools modules

* Add samplesheet, extra_gcvf and extra_snfs validation

* update hifiasm

* completely remove PED and rely on samplesheet

* fix methylation bug

* update modkit, removes now unneccesary creation of haplotype bams

* Formatting, remove unneccessary inputs

* fix leftover flag in pileup

* Add skip for phasing and remove more PED references

* Simplify sniffles, and put back dipcall par

* Update README.md

* Add skip for QC

* Update hiphase output files

* Add missing file column to snfs schema

* Update README.md

Remove reference to ped-file

* Annotate variants with one database

* Change to list of dbs

* Fix anno overwriting input with output

* Fix anno output file

* Add VEP annotation

* Update README and schema etc.

* Add 'hack' to be able to run ONT-files in TRGT

* Update README

* Update README.md

* Update README.md

* Split alignment for faster processing

* Call variants per regions in bed/fai

* Extracting regions from extra gVCFs takes too long

* Singularity image does not contain jemalloc

* Grab correct one

* glnexus will load full files into db even with bed

* split DV input in 13 instead of n regions in BED

* forgot wf

* Clean up, remove PMD/DT as snv-callers, and ONT_R9 as preset

* Remove index split alignments & update README

* Update README

* Update README.md

* Update README.md

* Add grouptuple size so downstream wf's don't have to wait for all samples to complete

* pipeline would freeze depending on number of regions specified

* better outputdirs for aligned reads

* Update docs with pipeline parameters

* Update README

* Update README.md

* Remove nf-core reference

* Split module configs

* Fix most process outdirs

* minimap2 soft-clips supplementary reads by default

* update hificnv config

* Add expected CN-files (for XX/XY), MAF-vcf and option to use an exclude regions file. Also update HiFiCNV version to v.0.1.7

* Use BED file for mosdepth

* Fix mosdepth running without BED

* Update samtools_cat_sort_index.nf

Fix args bug

* Fix sniffles args bug

* Update short_variant_calling.config

Merged SNV-vcfs output files were misssing

* Fix actually skipping CNV workflow is specifying so

* Update qc_aligned_reads.nf

Fix mosdepth bed input

* Update qc_aligned_reads.nf

* Update split_bed_chunks.py

Sometimes, the BED-output was with decimals. Difference between system?

* Update split_bed_chunks.py

* Update split_bed_chunks.py

Check that BED-file does not contain any spaces instead.

* Update README.md

* adding codeowners

* Add test profile and data (#33)

Add small test profile and data, hg38 asset files and code formatting.

* Update pipeline to run with a small test dataset (#35)

Reduce memory requirements, allow gzipped reference, single sample run and add BED file in modkit.

* Template merge 2.13.1 (#38)

Merge template version 2.13.1

* Fix bcftools merge (#43)

Fix bcftools merge
---------

Co-authored-by: Anders Jemt <[email protected]>

* Add Revio BAM test data and a multisample-BAM samplesheet (#50)

Add BAM test data and a multisample-BAM samplesheet

* Add support for uBAM and multisample test (#51)

Add ubam support and multisample test

* Update usage docs (#53)

update usage docs

---------

Co-authored-by: Anders Jemt <[email protected]>

* use biocontainer for glnexus

* change to pacbio registry

* run pre-commit

* Update CHANGELOG

* Fixed mosdepth input channel bug when bedfile is not provided

* Update module configs (#65)

Update config output directories and add minimal documentation

* Fix checking whether input files exist (#67)

* Add back files exist check, and fromSamplesheet

* Add CNV calling workflow to test profile  (#68)

* Don't skip cnv calling workflow

* Updated CHANGELOG.md

* Add SNV annotation test data (#76)

* Fix path in snp_dbs.csv (#77)

* Refactor parameters validation (#69)

* Refactor parateters validation

---------

Co-authored-by: Peter Pruisscher <[email protected]>

* Add SNV annotation to test profile (#75)

* fix version reporting (#84)

* Run a single phasing software instead of three in parallel (#83)

* Remove leftover print (#88)

* Release prep v.0.1.0 (#89)

* bump versions
* clear changelog

* Name change: Skierfe -> Nallo   (#39)

Co-authored-by: Anders Jemt <[email protected]>

* Change testdata location (#91)

* move test data
* add dummy samplesheet

* Update sniffles module (#92)

Co-authored-by: Anders Jemt <[email protected]>

* update deepvariant module (#93)

* Add stubs (#94)

* update download pipeline (#95)

* Update README.md

* Update README.md

* Update docs/usage.md

* Update docs/usage.md

* Update docs/usage.md

* Update docs/usage.md

* Update docs/usage.md

* Delete annotations directory (#97)

* Delete assets/test_data directory (#99)

* Update download_pipeline.yml (#96)

* Update snv_annotation.config (#98)

Full size test fails because only `BCFTOOLS_NORM_SINGLESAMPLE` and not `BCFTOOLS_NORM` was actually decomposing variants.

* Update conf/modules/structural_variant_calling.config

Co-authored-by: Anders Jemt <[email protected]>

* Apply suggestions from code review and full test issues (#107)

* Add review suggestions + full test changes

* Update CODEOWNERS (#112)

* Update CODEOWNERS

Change the code-owners to the GitHub team. This way we can more easily change the team and not having to update the CODEOWNERS

* Fixed org

* Update whatshap stats version to avoid ZeroDivisionError (#133)

* Update whatshap stats version to avoid ZeroDivisionError

* Update release date

* Update bcftools merge (#134)

* Bump date in changelog

* Since sex is now numberic, update branching criteria

* Was fixed before, but was overwritten

---------

Co-authored-by: Anders Jemt <[email protected]>
Co-authored-by: Ram Nanduri <[email protected]>
Co-authored-by: Peter Pruisscher <[email protected]>
Co-authored-by: Anders Lind <[email protected]>
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Add CNV-workflow to test profile
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@fellen31 @jemten