# nf-core/raredisease: Changelog

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).

## 2.0.1 - Asterix (Patch) [2024-03-25]

### `Fixed`

- Germlinecnvcaller subworkflow uses the output channel `casecalls` from germlinecnvcaller module instead of `calls` which was invalid. [#535](https://github.com/nf-core/raredisease/issues/535)

## 2.0.0 - Asterix [2024-03-18]

### `Added`

- Use `nf-validation` plugin for parameter and samplesheet validation [#386](https://github.com/nf-core/raredisease/pull/386)
- A new parameter `skip_vep_filter` to skip filtering based on vep results [#416](https://github.com/nf-core/raredisease/pull/416)
- A `metromap` representating the core parts of the pipeline [#428](https://github.com/nf-core/raredisease/pull/428)
- Metromap and logos for light and dark theme [#432](https://github.com/nf-core/raredisease/pull/432)
- New parameters to skip qualimap and eklipse (`--skip_qualimap` and `--skip_eklipse`) [#436](https://github.com/nf-core/raredisease/pull/436)
- Fix "there is no process matching config selector warnings" [#435](https://github.com/nf-core/raredisease/pull/435)
- New parameters to skip fastqc and haplocheck (`--skip_fastqc` and `--skip_haplocheck`) [#438](https://github.com/nf-core/raredisease/pull/438)
- CNVnator for copy number variant calling [#438](https://github.com/nf-core/raredisease/pull/434)
- A new parameter `svdb_query_bedpedbs` to provide bedpe files as databases for SVDB query [#449](https://github.com/nf-core/raredisease/pull/449)
- ngsbits samplegender to check sex [#453](https://github.com/nf-core/raredisease/pull/453)
- New workflow for generating cgh files from SV vcfs for interpretation in the CytosSure interpretation software. Turned off by default [#456](https://github.com/nf-core/raredisease/pull/456/)
- Fastp to do adapter trimming. It can be skipped using `--skip_fastp` [#457](https://github.com/nf-core/raredisease/pull/457)
- New workflow for calling insertion of mobile elements [#440](https://github.com/nf-core/raredisease/pull/440)
- GATK CNVCaller uses segments instead of intervals, filters out "reference" segments between the calls, and fixes a bug with how `ch_readcount_intervals` was handled [#472](https://github.com/nf-core/raredisease/pull/472)
- bwa aligner [#474](https://github.com/nf-core/raredisease/pull/474)
- Add FOUND_IN tag, which mentions the variant caller that found the mutation, in the INFO column of the vcf files [#471](https://github.com/nf-core/raredisease/pull/471)
- A new parameter `vep_plugin_files` to supply files required by vep plugins [#482](https://github.com/nf-core/raredisease/pull/482)
- New workflow for annotating mobile elements [#483](https://github.com/nf-core/raredisease/pull/483)
- Added a functionality to subsample mitochondrial alignment, and a new parameter `skip_mt_subsample` to skip the subworkflow [#508](https://github.com/nf-core/raredisease/pull/508).
- Chromograph to plot coverage across chromosomes [#507](https://github.com/nf-core/raredisease/pull/507)
- Added a new parameter `vep_filters_scout_fmt` to supply a bed-like file exported by scout to be used in filter_vep [#511](https://github.com/nf-core/raredisease/pull/511).
- Added two new parameters `variant_consequences_snv` and `variant_consequences_sv` to supply variant consequence files for annotating SNVs and SVs. [#509](https://github.com/nf-core/raredisease/pull/509)

### `Changed`

- Tiddit updated to v3.6.1 [#385](https://github.com/nf-core/raredisease/pull/385)
- Installed the nf-core version of the sentieon/bwamemindex module [#397](https://github.com/nf-core/raredisease/pull/397)
- Installed the nf-core version of the sentieon/bwamem module [#398](https://github.com/nf-core/raredisease/pull/398)
- Installed the nf-core version of the sentieon/readwriter module [#399](https://github.com/nf-core/raredisease/pull/399)
- Installed the nf-core version of the sentieon/datametrics module [#400](https://github.com/nf-core/raredisease/pull/400)
- Installed the nf-core version of the sentieon/dedup module. The dedup module also contains a call to Sentieon's LocusCollector [#401](https://github.com/nf-core/raredisease/pull/401)
- Removing Sentieon-based BQSR. Recent Illumina sequencers tend to provide well-calibrated BQs, so BQSR may not provide much benefit [#402](https://github.com/nf-core/raredisease/pull/402)
- Installed the nf-core version of the sentieon/dnamodelapply module [#403](https://github.com/nf-core/raredisease/pull/403)
- Installed the nf-core version of the sentieon/wgsmetricsalgo module [#404](https://github.com/nf-core/raredisease/pull/404)
- Installed the nf-core version of the sentieon/dnascope module [#406](https://github.com/nf-core/raredisease/pull/406)
- Breaks down mitochondrial analysis workflow into smaller subworkflows that are more modular [#419](https://github.com/nf-core/raredisease/pull/419)
- Replaced the parameter skip_mt_analysis which was used to turn on/off the mitochondrial workflow [#419](https://github.com/nf-core/raredisease/pull/419)
- Adds a new parameter skip_mt_annotation which can be used to turn on/off annotation and ranking for mitochondrial SNVs [#419](https://github.com/nf-core/raredisease/pull/419)
- Changed the name of the parameter from `skip_cnv_calling` to `skip_germlinecnvcaller` [#435](https://github.com/nf-core/raredisease/pull/435)
- Check SVDB query input files for existence and correct format [#476](https://github.com/nf-core/raredisease/pull/476)
- Change hardcoded platform value to params.platform in align_MT.config [#475](https://github.com/nf-core/raredisease/pull/475)
- The split into clincial and research VCFs is now done before ranking the varaints [#485](https://github.com/nf-core/raredisease/pull/485)
- Installed the nf-core version of ensemblvep/vep module [#482](https://github.com/nf-core/raredisease/pull/482)
- The filenames of the ranked output VCF files have been changed. See [output.md](docs/output.md#filtering-and-ranking) for more information[#485](https://github.com/nf-core/raredisease/pull/485)
- Patched cnvnator module so that the processes didn't have to rerun after a failed run [#503](https://github.com/nf-core/raredisease/pull/503).
- Added a local module to generate bed files with variant caller names [#505](https://github.com/nf-core/raredisease/pull/505).

### `Fixed`

- Invalid GATK4 container which caused incorrect singularity downloads with nf-core download [nf-core/modules #3668](https://github.com/nf-core/modules/issues/3668)
- Make the default cram prefix same as markduplicates prefix [#392](https://github.com/nf-core/raredisease/pull/392)
- Sort ranked SV vcf before indexing with tabix [#393](https://github.com/nf-core/raredisease/pull/393)
- Make target bed file optional for WGS mode (Issue [#375](https://github.com/nf-core/raredisease/issues/375)) [#395](https://github.com/nf-core/raredisease/pull/395)
- Added constraints to block the pipeline from running CollectWgsMetrics on WES samples [#396](https://github.com/nf-core/raredisease/pull/396)
- Updated modules from nf-core [#412](https://github.com/nf-core/raredisease/pull/412)
- If present, remove duplicate entries in probands and upd_children in the meta. [#420](https://github.com/nf-core/raredisease/pull/420)
- Fixes vep starting as many instances as the square of the number of scatters. [#405](https://github.com/nf-core/raredisease/pull/405)
- Replaced the logic where we added an arbitrary substring to keep file names unique after alignment which we then removed using a split operator, with a simple copy operation. [#425](https://github.com/nf-core/raredisease/pull/425)
- Preventing a crash of rhocall annotate in the case of running four individuals whereof two are affected.
- Fixed memory qualifier in gatk4 germlinecnvcaller and postprocessgermlinecnvcalls
- Fixed wrong process names when outputting versions in `ALIGN_SENTIEON` and `CALL_SNV`.
- Fixed gens subworkflow [#515](https://github.com/nf-core/raredisease/pull/515)

### Parameters

| Old parameter         | New parameter                         |
| --------------------- | ------------------------------------- |
|                       | `--cnvnator_binsize`                  |
|                       | `--gens_pon_female`                   |
|                       | `--gens_pon_male`                     |
|                       | `--min_trimmed_length`                |
|                       | `--mobile_element_references`         |
|                       | `--mobile_element_svdb_annotations`   |
|                       | `--mt_subsample_rd`                   |
|                       | `--mt_subsample_seed`                 |
|                       | `--ngsbits_samplegender_method`       |
|                       | `--rtg_truthvcfs`                     |
|                       | `--run_rtgvcfeval`                    |
|                       | `--sample_id_map`                     |
|                       | `--score_config_mt`                   |
|                       | `--sdf`                               |
| `--pcr_amplification` | `--sentieon_dnascope_pcr_indel_model` |
|                       | `--skip_eklipse`                      |
|                       | `--skip_fastqc`                       |
|                       | `--skip_fastp`                        |
|                       | `--skip_gens`                         |
|                       | `--skip_germlinecnvcaller`            |
|                       | `--skip_haplocheck`                   |
|                       | `--skip_me_annotation`                |
|                       | `--skip_mt_annotation`                |
|                       | `--skip_mt_subsample`                 |
|                       | `--skip_peddy`                        |
|                       | `--skip_qualimap`                     |
|                       | `--skip_vcf2cytosure`                 |
|                       | `--skip_vep_filter`                   |
|                       | `--svdb_query_bedpedbs`               |
|                       | `--variant_consequences_snv`          |
|                       | `--variant_consequences_sv`           |
|                       | `--vcf2cytosure_blacklist`            |
|                       | `--vep_plugin_files`                  |
|                       | `--vep_filters_scout_fmt`             |
| `--gens_pon`          |                                       |
| `--gens_switch`       |                                       |
| `--skip_cnv_calling`  |                                       |
| `--skip_mt_analysis`  |                                       |

:::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.
:::

## v1.1.1 - Abu (Patch) [2023-07-26]

### `Fixed`

- Avoids errors thrown by bcftools concat due to sample names in input vcf files not being in same order [#388](https://github.com/nf-core/raredisease/pull/388)

## v1.1.0 - Abu [2023-07-21]

### `Added`

- Add GATK's cnv calling pipeline [#362](https://github.com/nf-core/raredisease/pull/362)
- GATK's ShiftFasta to generate all the files required for mitochondrial analysis [#354](https://github.com/nf-core/raredisease/pull/354)
- Feature to calculate CADD scores for indels [#325](https://github.com/nf-core/raredisease/pull/325)
- HmtNote to annotate mitochondria [#355](https://github.com/nf-core/raredisease/pull/355)
- MT del script to detect mitochondrial deletions [#349](https://github.com/nf-core/raredisease/pull/349)
- eKLIPse to identify large mitochondrial deletions [#365](https://github.com/nf-core/raredisease/pull/365)
- UPD+Chromograph to identify and visualize UPD sites and regions in the chromosomes [#364](https://github.com/nf-core/raredisease/pull/364) and [#366](https://github.com/nf-core/raredisease/pull/366)
- Added check for presence of case id for each sample in samplesheet [#357](https://github.com/nf-core/raredisease/pull/357)

### Fixed

- Avoiding publishing uncompressed VCF-file from `HMTNOTE_ANNOTATE`. (The corresponding compressed VCF-file still gets published.) [#368](https://github.com/nf-core/raredisease/pull/368)

## v1.0.0 - Aladdin [2023-06-01]

Initial release of nf-core/raredisease, created with the [nf-core](https://nf-co.re/) template.

### `Added`

- FastQC read quality control
- Read mapping with BWAmem2/Sentieon
- Qualimap & Picard tools quality control metrics
- Call repeat expansions with ExpansionHunter and Stranger
- SNV calling with DeepVariant/Sentieon
- SV calling with Manta and TIDDIT
- SNV annotation with bcftools roh, vcfanno, and vep
- SV annotation with SVDB query and vep
- Separate workflow for analysing and annotating mitochondrial variants
- Call copy number variants in the SMN gene using SMNCopyNumberCaller
