Release 0.3.0

.editorconfig

@@ -31,3 +31,8 @@ indent_size = unset
 # ignore python and markdown
 [*.{py,md}]
 indent_style = unset
+
+# ignore parameters.md
+[parameters.md]
+trim_trailing_whitespace = false
+indent_style = unset

.github/workflows/ci.yml

@@ -15,6 +15,9 @@ concurrency:
   group: "${{ github.workflow }}-${{ github.event.pull_request.number || github.ref }}"
   cancel-in-progress: true
 
+permissions:
+  checks: write
+
 jobs:
   test:
     name: Run pipeline with test data
@@ -25,7 +28,7 @@ jobs:
       matrix:
         parameters:
           - ""
-          - "--input https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/testdata/samplesheet_multisample_bam.csv --split_fastq 2 --parallel_snv 1 --phaser hiphase_sv"
+          - "--preset ONT_R10 --input https://github.com/genomic-medicine-sweden/test-datasets/raw/e2266a34c14d1e0a9ef798de3cd81a76c9216fc1/testdata/samplesheet_multisample_bam_ont.csv --parallel_alignments 2 --parallel_snv 1"
         NXF_VER:
           - "23.04.0"
           - "latest-everything"
@@ -44,3 +47,61 @@ jobs:
       - name: Run pipeline with test data
         run: |
           nextflow run ${GITHUB_WORKSPACE} -profile test,docker --outdir ./results ${{ matrix.parameters }}
+  nftest:
+    name: ${{ matrix.tags }} ${{ matrix.profile }} NF-${{ matrix.NXF_VER }}
+    runs-on: ubuntu-latest
+    strategy:
+      fail-fast: false
+      matrix:
+        NXF_VER:
+          - "latest-everything"
+          - "23.04.0"
+        tags:
+          - "SHORT_VARIANT_CALLING"
+          - "SNV_ANNOTATION"
+          - "samplesheet"
+          - "samplesheet_multisample_bam"
+        profile:
+          - "docker"
+
+    steps:
+      - name: Check out pipeline code
+        uses: actions/checkout@b4ffde65f46336ab88eb53be808477a3936bae11 # v4
+
+      - name: Install Nextflow
+        uses: nf-core/setup-nextflow@b9f764e8ba5c76b712ace14ecbfcef0e40ae2dd8 # v1
+        with:
+          version: "${{ matrix.NXF_VER }}"
+
+      - uses: nf-core/setup-nf-test@v1
+
+      - uses: actions/setup-python@v4
+        with:
+          python-version: "3.11"
+          architecture: "x64"
+
+      - name: Install pdiff to see diff between nf-test snapshots
+        run: |
+          python -m pip install --upgrade pip
+          pip install pdiff
+
+      - name: Run nf-test
+        run: |
+          nf-test test --verbose --tag ${{ matrix.tags }} --profile "+${{ matrix.profile }}" --junitxml=test.xml --tap=test.tap
+
+      - uses: pcolby/tap-summary@v1
+        with:
+          path: >-
+            test.tap
+
+      - name: Output log on failure
+        if: failure()
+        run: |
+          sudo apt install bat > /dev/null
+          batcat --decorations=always --color=always ${{ github.workspace }}/.nf-test/tests/*/meta/nextflow.log
+
+      - name: Publish Test Report
+        uses: mikepenz/action-junit-report@v3
+        if: always() # always run even if the previous step fails
+        with:
+          report_paths: test.xml

.gitignore

@@ -6,3 +6,4 @@ results/
 testing/
 testing*
 *.pyc
+.nf-test*

.nf-core.yml

@@ -2,6 +2,7 @@ lint:
   files_exist:
     - CODE_OF_CONDUCT.md
     - assets/nf-core-nallo_logo_light.png
+    - docs/README.md
     - docs/images/nf-core-nallo_logo_light.png
     - docs/images/nf-core-nallo_logo_dark.png
     - .github/ISSUE_TEMPLATE/config.yml
@@ -11,10 +12,12 @@ lint:
   files_unchanged:
     - CODE_OF_CONDUCT.md
     - assets/nf-core-nallo_logo_light.png
+    - docs/README.md
     - docs/images/nf-core-nallo_logo_light.png
     - docs/images/nf-core-nallo_logo_dark.png
     - .github/ISSUE_TEMPLATE/bug_report.yml
     - .github/CONTRIBUTING.md
+    - .prettierignore
   multiqc_config:
     - report_comment
   nextflow_config:

.prettierignore

@@ -4,6 +4,7 @@ slackreport.json
 .nextflow*
 work/
 data/
+docs/parameters.md
 results/
 .DS_Store
 testing/

CHANGELOG.md

@@ -3,6 +3,132 @@
 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).
 
+## v0.3.0 - [2024-08-29]
+
+### `Added`
+
+- [#230](https://github.com/genomic-medicine-sweden/nallo/pull/230) - Added nf-test to the short variant calling workflow
+- [#231](https://github.com/genomic-medicine-sweden/nallo/pull/231) - Added initial tests for ONT data
+- [#234](https://github.com/genomic-medicine-sweden/nallo/pull/234) - Added a `--deepvariant_model_type` parameter to override the model type set by `--preset`
+- [#239](https://github.com/genomic-medicine-sweden/nallo/pull/239) - Added initial nf-test to the pipeline
+- [#243](https://github.com/genomic-medicine-sweden/nallo/pull/243) - Added nf-test to the short variant annotation workflow
+- [#245](https://github.com/genomic-medicine-sweden/nallo/pull/245) - Added repeat annotation with Stranger
+- [#252](https://github.com/genomic-medicine-sweden/nallo/pull/252) - Added a new `SCATTER_GENOME` subworkflow
+- [#255](https://github.com/genomic-medicine-sweden/nallo/pull/255) - Added a new `RANK_VARIANTS` subworkflow to rank SNVs using genmod
+- [#261](https://github.com/genomic-medicine-sweden/nallo/pull/261) - Added a `--skip_rank_variants` parameter to skip the rank_variants subworkflow
+- [#264](https://github.com/genomic-medicine-sweden/nallo/pull/264) - Added a `project` column to the sampleheet
+- [#266](https://github.com/genomic-medicine-sweden/nallo/pull/266) - Added CADD to dynamically calculate indel CADD-scores
+- [#270](https://github.com/genomic-medicine-sweden/nallo/pull/270) - Added SNV phasing stats to MultiQC
+- [#271](https://github.com/genomic-medicine-sweden/nallo/pull/271) - Added a `--skip_aligned_read_qc` parameter to skip the qc aligned reads subworkflow
+- [#314](https://github.com/genomic-medicine-sweden/nallo/pull/314) - Added a `--vep_plugin_files` parameter to separate VEP plugins from cache
+- [#320](https://github.com/genomic-medicine-sweden/nallo/pull/320) - Added complete citations to CITATIONS.md and MultiQC report
+
+### `Changed`
+
+- [#232](https://github.com/genomic-medicine-sweden/nallo/pull/232) - Changed to softer `--preset` requirements, non-supported subworkflows can now be explicitly enabled if necessary
+- [#232](https://github.com/genomic-medicine-sweden/nallo/pull/232) - Changed `--skip_repeat_wf` to default to true for preset ONT_R10
+- [#233](https://github.com/genomic-medicine-sweden/nallo/pull/233) - Changed the CNV calling workflow to allow calling using ONT data
+- [#235](https://github.com/genomic-medicine-sweden/nallo/pull/235) - Changed the ONT_R10 preset to not allow phasing with HiPhase
+- [#240](https://github.com/genomic-medicine-sweden/nallo/pull/240) - Reorganize processes in the snv annotation and short variant calling workflows
+- [#240](https://github.com/genomic-medicine-sweden/nallo/pull/240) - GLNexus multisample output is now decomposed and normalized
+- [#244](https://github.com/genomic-medicine-sweden/nallo/pull/244) - Updated VEP with more annotations
+- [#245](https://github.com/genomic-medicine-sweden/nallo/pull/245) - Merged (multisample) repeats from TRGT is now output even if there's only one sample
+- [#245](https://github.com/genomic-medicine-sweden/nallo/pull/245) - Split the repeat analysis workflow into one calling and one annotation workflow, `--skip_repeat_wf` becomes `--skip_repeat_calling` and `--skip_repeat_annotation`
+- [#246](https://github.com/genomic-medicine-sweden/nallo/pull/246) - Renamed processes and light refactoring of the short variant calling workflow
+- [#246](https://github.com/genomic-medicine-sweden/nallo/pull/246) - Use groupKey to remove bottleneck in the short variant calling workflow
+- [#247](https://github.com/genomic-medicine-sweden/nallo/pull/247) - Updated nft-bam to 0.3.0 and added BAM reads to snapshot
+- [#247](https://github.com/genomic-medicine-sweden/nallo/pull/247) - Changed minimap2 preset from `map-ont` to `lr:hq` for `--preset ONT_R10`
+- [#250](https://github.com/genomic-medicine-sweden/nallo/pull/250) - Run mosdepth with `--fast-mode` and add to MultiQC report
+- [#251](https://github.com/genomic-medicine-sweden/nallo/pull/251) - Switched from annotating single sample VCFs to annotating a multisample VCF, splitting the VCF per sample afterwards to keep outputs almost consistent
+- [#256](https://github.com/genomic-medicine-sweden/nallo/pull/256) - Changed Stranger to annotate single-sample VCFs instead of a multi-sample VCF
+- [#258](https://github.com/genomic-medicine-sweden/nallo/pull/258) - Updated test profile parameters to speed up tests
+- [#260](https://github.com/genomic-medicine-sweden/nallo/pull/260) - Updated DeepVariant to 1.6.1 and htslib (tabix) to 1.20
+- [#261](https://github.com/genomic-medicine-sweden/nallo/pull/261) - Changed SNV annotation to run in parallel
+- [#261](https://github.com/genomic-medicine-sweden/nallo/pull/261) - Changed SNV output file names and directory structure
+- [#262](https://github.com/genomic-medicine-sweden/nallo/pull/262) - Updated README
+- [#264](https://github.com/genomic-medicine-sweden/nallo/pull/264) - Changed PED file creation from groovy script to process
+- [#264](https://github.com/genomic-medicine-sweden/nallo/pull/264) - Changed all `multisample` filenames to `{project}` from samplesheet
+- [#268](https://github.com/genomic-medicine-sweden/nallo/pull/268) - Only output unphased alignments when phasing is off
+- [#268](https://github.com/genomic-medicine-sweden/nallo/pull/268) - Changed alignment output file names and directory structure
+- [#270](https://github.com/genomic-medicine-sweden/nallo/pull/270) - Changed whatshap stats to always run, regardless of phasing software, and changed the output from `*.stats.tsv.gz` to `*.stats.tsv` to allow being picked up by MultiQC
+- [#277](https://github.com/genomic-medicine-sweden/nallo/pull/277) - Allowed CNV calling as soon as SNV calling for a sample is finished
+- [#278](https://github.com/genomic-medicine-sweden/nallo/pull/278) - Changed the SNV ranking to run in parallel per region
+- [#300](https://github.com/genomic-medicine-sweden/nallo/pull/300) - Clarified and formatted nallo.nf
+- [#304](https://github.com/genomic-medicine-sweden/nallo/pull/304) - Changed to treat (u)BAM as the primary input by skipping fastq conversion before aligning
+- [#306](https://github.com/genomic-medicine-sweden/nallo/pull/306) - Updated echtvar version
+- [#307](https://github.com/genomic-medicine-sweden/nallo/pull/307) - Changed somalier relate to also run per sample on sampes with unknown sex, removing the need to wait on all samples to finish aligment before starting variant calling
+- [#307](https://github.com/genomic-medicine-sweden/nallo/pull/307) - Changed the removal of n_files from meta from bam_infer_sex to nallo.nf
+- [#308](https://github.com/genomic-medicine-sweden/nallo/pull/308) - Updated nf-core modules, fixed warnings in local modules, added Dockerfile to fqcrs
+- [#312](https://github.com/genomic-medicine-sweden/nallo/pull/312) - Changed echtvar encode database creation to use dynamic `${project}` from samplesheet
+- [#313](https://github.com/genomic-medicine-sweden/nallo/pull/313) - Updated calling of variants in non-autosomal contigs for DeepVariant
+- [#314](https://github.com/genomic-medicine-sweden/nallo/pull/314) - Changed VEP annotation added in #244 to not include SpliceAI
+- [#317](https://github.com/genomic-medicine-sweden/nallo/pull/317) - Changed so that `--reduced_penetrance` and `--score_config_snv` is required by rank variants and not SNV annotation
+- [#318](https://github.com/genomic-medicine-sweden/nallo/pull/318) - Updated docs and schema to clarify pipeline usage
+- [#321](https://github.com/genomic-medicine-sweden/nallo/pull/321) - Changed the input to BUILD_INTERVALS to have `meta.id` when building intervals from reference
+- [#323](https://github.com/genomic-medicine-sweden/nallo/pull/323) - Changed `parallel_alignment` to `parallel_alignments` in CI tests as well
+- [#330](https://github.com/genomic-medicine-sweden/nallo/pull/330) - Updated README and version bump
+- [#332](https://github.com/genomic-medicine-sweden/nallo/pull/332) - Changed the PED file input to genmod to include inferred sex from somalier
+- [#333](https://github.com/genomic-medicine-sweden/nallo/pull/333) - Updated TRGT to 0.7.0 and added `meta.id` as output sample name
+
+### `Removed`
+
+- [#237](https://github.com/genomic-medicine-sweden/nallo/pull/237) - Removed the CONVERT_ONT_READNAMES module that was run before calling repeats with TRGT
+- [#238](https://github.com/genomic-medicine-sweden/nallo/pull/238) - Removed the `--extra_gvcfs` parameter
+- [#243](https://github.com/genomic-medicine-sweden/nallo/pull/243) - Removed VEP report from output files
+- [#257](https://github.com/genomic-medicine-sweden/nallo/pull/257) - Removed obsolete TODO statements
+- [#258](https://github.com/genomic-medicine-sweden/nallo/pull/258) - Removed VCF report from DeepVariant output
+- [#264](https://github.com/genomic-medicine-sweden/nallo/pull/264) - Removed the option to provide extra SNF files to Sniffles with `--extra_snfs`
+- [#305](https://github.com/genomic-medicine-sweden/nallo/pull/305) - Removed unused local module bcftools view regions
+- [#319](https://github.com/genomic-medicine-sweden/nallo/pull/319) - Removed samtools reset before samtools fastq when converting BAM to FASTQ
+
+### `Fixed`
+
+- [#231](https://github.com/genomic-medicine-sweden/nallo/pull/231) - Fixed certain tags in input BAM files being transfered over to (re)aligned BAM
+- [#252](https://github.com/genomic-medicine-sweden/nallo/pull/252) - Fixed duplicate SNVs in outputs when providing a BED-regions with overlapping regions
+- [#267](https://github.com/genomic-medicine-sweden/nallo/pull/267) - Fixed warning where `MODKIT_PILEUP_HAPLOTYPES` would be defined more than once
+- [#300](https://github.com/genomic-medicine-sweden/nallo/pull/300) - Fixed missing paraphase version
+
+### Parameters
+
+| Old parameter      | New parameter              |
+| ------------------ | -------------------------- |
+| `--skip_repeat_wf` | `--skip_repeat_calling`    |
+| `--skip_repeat_wf` | `--skip_repeat_annotation` |
+|                    | `--deepvariant_model_type` |
+|                    | `--skip_rank_variants`     |
+|                    | `--skip_aligned_read_qc`   |
+|                    | `--cadd_resources`         |
+|                    | `--cadd_prescored`         |
+| `--split_fastq`    | `--parallel_alignments`    |
+| `--extra_gvcfs`    |                            |
+| `--extra_snfs`     |                            |
+| `--dipcall_par`    | `--par_regions`            |
+|                    | `--vep_plugin_files`       |
+
+> [!NOTE]
+> Parameter has been updated if both old and new parameter information is present.
+> Parameter has been added if just the new parameter information is present.
+> Parameter has been removed if new parameter information isn't present.
+
+### Module updates
+
+| Tool                        | Old version | New version |
+| --------------------------- | ----------- | ----------- |
+| deepvariant                 | 1.5.0       | 1.6.1       |
+| tabix                       | 1.19.1      | 1.20        |
+| echtvar                     | 0.1.7       | 0.2.0       |
+| somalier                    | 0.2.15      | 0.2.18      |
+| TRGT                        | 0.4.0       | 0.7.0       |
+| cadd                        |             | 1.6.post1   |
+| gawk                        |             | 5.3.0       |
+| add_most_severe_consequence |             | v1.0        |
+| add_most_severe_pli         |             | v1.0        |
+| create_pedigree_file        |             | v1.0        |
+| genmod                      |             | 3.8.2       |
+| stranger                    |             | 0.9.1       |
+| splitubam                   |             | 0.1.1       |
+| fastp                       | 0.23.4      |             |
+
 ## v0.2.0 - [2024-06-26]
 
 ### `Added`