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d8495e7
fix(postprocess_mt_calls): split multiallelics after bcftools merge
ramprasadn May 25, 2026
2f59757
Update CHANGELOG.md
ramprasadn May 25, 2026
ea69807
Add cadd_prescored
ramprasadn Jun 1, 2026
7d0c162
Merge pull request #866 from nf-core/caddfix
ramprasadn Jun 1, 2026
842e71f
add option to specify callregions for manta
ramprasadn Jun 1, 2026
2198155
Merge branch 'patch' of github.com:nf-core/raredisease into caddfix
ramprasadn Jun 1, 2026
646c6b8
update usage
ramprasadn Jun 1, 2026
9bcbde8
update snapshot
ramprasadn Jun 1, 2026
8a1c283
Merge branch 'patch' of github.com:nf-core/raredisease into patch
ramprasadn Jun 1, 2026
3bbb0f1
Merge branch 'patch' of github.com:nf-core/raredisease into caddfix
ramprasadn Jun 1, 2026
c82ad0a
[automated] Fix code linting
nf-core-bot Jun 1, 2026
ef99501
add a separate param for manta call region tbi
ramprasadn Jun 2, 2026
8a63585
update changelog
ramprasadn Jun 2, 2026
265ffe6
Merge branch 'caddfix' of github.com:nf-core/raredisease into caddfix
ramprasadn Jun 2, 2026
aa58f16
move logic upstream
ramprasadn Jun 3, 2026
b425008
Merge pull request #867 from nf-core/caddfix
ramprasadn Jun 3, 2026
5f75e16
switch out ensemblvep's filtervep for a custom script
ramprasadn Jun 5, 2026
befc4bf
strip new line
ramprasadn Jun 5, 2026
c582c88
review suggestion
ramprasadn Jun 10, 2026
5144481
update script description
ramprasadn Jun 10, 2026
f916a9a
review suggestion
ramprasadn Jun 10, 2026
8dd2abb
rename to filter_vep
ramprasadn Jun 10, 2026
0069ecd
update name
ramprasadn Jun 10, 2026
d987cb0
Merge pull request #870 from nf-core/filterveplocal
ramprasadn Jun 10, 2026
8b46f18
Add bwafastalign/index
ramprasadn Jun 10, 2026
6fe3276
update changelog
ramprasadn Jun 10, 2026
bba36dc
[automated] Fix code linting
nf-core-bot Jun 10, 2026
689dfa9
Update CHANGELOG.md
ramprasadn Jun 10, 2026
1adc755
update snap
ramprasadn Jun 10, 2026
e80b483
Merge branch 'filterveplocal' of github.com:nf-core/raredisease into …
ramprasadn Jun 10, 2026
3a9c190
update saltshaker modules
Jun 11, 2026
422de4c
update snaps
ieduba Jun 11, 2026
0a1d4d9
merge with patch
ieduba Jun 11, 2026
b0c4e24
update changelog
ieduba Jun 11, 2026
75f0265
Update subworkflows/local/prepare_references/main.nf
ramprasadn Jun 11, 2026
7117b9b
Merge pull request #877 from nf-core/filterveplocal
ramprasadn Jun 11, 2026
7654083
Add bwafastalign genome aligner support
ramprasadn Jun 12, 2026
ac47656
Merge pull request #879 from nf-core/update_saltshaker
ieduba Jun 12, 2026
68efffa
add test
ramprasadn Jun 12, 2026
0c95c24
update changelog
ramprasadn Jun 12, 2026
08476a3
Update CHANGELOG.md
ramprasadn Jun 12, 2026
fc5ca95
Merge pull request #880 from nf-core/bwafastalignmem
ramprasadn Jun 12, 2026
a883fad
update bwameme
ramprasadn Jun 13, 2026
131711f
Update changelog
ramprasadn Jun 13, 2026
fbf3881
Merge branch 'patch' into bwafastalignmem
ramprasadn Jun 13, 2026
b538803
Merge pull request #881 from nf-core/bwafastalignmem
ramprasadn Jun 14, 2026
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36 changes: 36 additions & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -3,6 +3,41 @@
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).

## 3.0.1 - Mario-patch [2026-05-25]

### `Added`

- Parameter `cadd_prescored` to pass a directory of pre-scored CADD indel annotations to the CADD process in genome and mitochondrial SNV annotation subworkflows [#866](https://github.com/nf-core/raredisease/pull/866)
- Parameter `manta_call_regions` to restrict Manta SV calling to specified regions (e.g. primary chromosomes) via a bgzipped, tabix-indexed BED file, reducing runtime without affecting other callers [#867](https://github.com/nf-core/raredisease/pull/867)
- Local `FILTERVEP` module using a Python reimplementation of Ensembl's `filter_vep`, replacing the `ENSEMBLVEP_FILTERVEP` module with a lighter cyvcf2-based alternative [#870](https://github.com/nf-core/raredisease/pull/870)
- `bwafastalign/index` nf-core module and `bwafastalign` parameter to support index preparation for the bwa-fastalign genome aligner [#877](https://github.com/nf-core/raredisease/pull/877)
- `bwafastalign/mem` nf-core module to support genome alignment with bwa-fastalign when `--aligner bwafastalign` is set [#880](https://github.com/nf-core/raredisease/pull/880)

### `Changed`

- Replace `ENSEMBLVEP_FILTERVEP` with local `FILTERVEP` in the clinical set subworkflow, renamed from `VCF_FILTER_BCFTOOLS_ENSEMBLVEP` to `VCF_FILTER_BCFTOOLS_FILTERVEP` [#870](https://github.com/nf-core/raredisease/pull/870)
- Increase default mbuffer memory value from 3GB to 8GB [#880](https://github.com/nf-core/raredisease/pull/880)
- Update `bwameme/mem` to new nf-core module signature: `val mbuffer` and `val samtools_threads` replaced by `ext.args2` and `ext.args3` [#881](https://github.com/nf-core/raredisease/pull/881)

### `Fixed`

- Add a bcftools norm split-multiallelics step after merging standard and shifted MT calls to handle new multiallelic sites introduced by bcftools merge [#855](https://github.com/nf-core/raredisease/pull/855)

### Parameters

| Old parameter | New parameter |
| ------------- | ---------------------- |
| | bwafastalign |
| | cadd_prescored |
| | manta_call_regions |
| | manta_call_regions_tbi |

### Tool updates

| Tool | Old version | New version |
| ------------- | ----------- | ----------- |
| bwa-fastalign | | 1.0.0 |

## 3.0.0 - Mario [2026-05-12]

### `Added`
Expand Down Expand Up @@ -121,6 +156,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
| picard | 3.3.0 | 3.4.0 |
| pigz | 2.3.4 | 2.8 |
| qualimap | 2.3 | |
| saltshaker | 1.0.0 | 1.1.1 |
| sambamba | | 1.0.1 |
| samtools | 1.21 | 1.22.1 |
| sentieon | 202503 | 202503.02 |
Expand Down
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