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Copy file name to clipboardExpand all lines: CHANGELOG.md
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-[#115](https://github.com/nf-core/sarek/pull/115) - Add [@szilvajuhos](https://github.com/szilvajuhos) abstract for ESHG2020
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-[#117](https://github.com/nf-core/sarek/pull/117) - Add `Trim Galore` possibilities to Sarek
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-[#141](https://github.com/nf-core/sarek/pull/141) - Add containers for `WBcel235`
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-GitHub actions AWS megatests
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-[#150](https://github.com/nf-core/sarek/pull/150), [#151](https://github.com/nf-core/sarek/pull/151), [#154](https://github.com/nf-core/sarek/pull/154) - Add AWS mega test GitHub Actions
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### `Changed`
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-[#141](https://github.com/nf-core/sarek/pull/141) - Update `VEP` databases to `99`
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-[#143](https://github.com/nf-core/sarek/pull/143) - Revert `snpEff` cache version to `75` for `GRCh37`
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-[#143](https://github.com/nf-core/sarek/pull/143) - Revert `snpEff` cache version to `86` for `GRCh38`
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-[#129](https://github.com/nf-core/sarek/pull/129) - Apply @drpatelh fix for `mardown_to_html.py` compatibility with Python 2
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-[#129](https://github.com/nf-core/sarek/pull/129) - Removed `Python``3.7.3` from conda environment due to incompatibility
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-[#129](https://github.com/nf-core/sarek/pull/129) - Change ascii characters that were not supported from the `output.md` docs
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-[#140](https://github.com/nf-core/sarek/pull/140) - Fix extra T/N combinations for `ASCAT` cf [#136](https://github.com/nf-core/sarek/issues/136)
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-[#141](https://github.com/nf-core/sarek/pull/141) - Fix `download_cache.nf` script to download cache for `snpEff` and `VEP`
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-[#143](https://github.com/nf-core/sarek/pull/143) - Fix annotation CI testing with `snpEff` and `VEP`
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-[#144](https://github.com/nf-core/sarek/pull/144) - Fix CircleCI for building `VEP` containers
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-[#146](https://github.com/nf-core/sarek/pull/146) - Fix `--no_intervals` for `Mutect2` cf [#135](https://github.com/nf-core/sarek/issues/135)
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### `Deprecated`
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-[#107](https://github.com/nf-core/sarek/pull/107) - `--singleCPUMem` is now removed, use `--single_cpu_mem` instead
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-[#107](https://github.com/nf-core/sarek/pull/107) - `--snpeffDb` is now removed, use `--snpeff_db` instead
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-[#107](https://github.com/nf-core/sarek/pull/107) - `--vepCacheVersion` is now removed, use `--vep_cache_version` instead
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## Citation
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If you use `nf-core/sarek` for your analysis, please cite the `Sarek` pre-print as follows:
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> Garcia M, Juhos S, Larsson M et al. **Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 1; peer review: awaiting peer review].**.*F1000Research* 2020, 9:63.[doi: 10.12688/f1000research.16665.1](https://f1000research.com/articles/9-63/v1).
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> Garcia M, Juhos S, Larsson M et al. **Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 1; peer review: 1 approved]***F1000Research* 2020, 9:63 [doi: 10.12688/f1000research.16665.1](https://f1000research.com/articles/9-63/v1).
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You can cite the sarek zenodo record for a specific version using the following [doi: 10.5281/zenodo.3476426](https://zenodo.org/badge/latestdoi/184289291)
Copy file name to clipboardExpand all lines: docs/annotation.md
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VCF produced by Sarek will be annotated if `snpEff` or `VEP` are specified with the `--tools` command.
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As Sarek will use `bgzip` and `tabix` to compress and index VCF files annotated, it expects VCF files to be sorted.
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In these examples, all command lines will be launched starting with step `annotate`.
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In these examples, all command lines will be launched starting with `--step annotate`.
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It can of course be started directly from any other step instead.
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## Using genome specific containers
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Sarek has already designed containers with `snpEff` and `VEP` files for `GRCh37`, `GRCh38` and `GRCm38`.
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Sarek has already designed containers with `snpEff` and `VEP` files for Human (`GRCh37`, `GRCh38`) Mouse (`GRCm38`), Dog (`CanFam3.1`) and Roundworm (`WBcel235`).
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Default settings will run using these containers.
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The main Sarek container has also `snpEff` and `VEP` installed, but without the cache files that can be downloaded separately.
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## Download cache
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A Nextflow helper script has been designed to help downloading `snpEff` and `VEP` cache.
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Such files are meant to be shared between multiple users, so this script is mainly meant for people administrating servers, clusters and advanced users.
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```bash
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nextflow run download_cache.nf --snpeff_cache </Path/To/snpEffCache> --snpeff_db <snpEff DB version> --genome <GENOME>
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Such files are meant to be share between multiple users, so this script is mainly meant for people administrating servers, clusters and advanced users.
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```bash
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nextflow run downloadcache.nf --cadd_cache /Path/To/CADDcache --cadd_version <CADD version> --genome <GENOME>
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nextflow run download_cache.nf --cadd_cache </Path/To/CADDcache> --cadd_version <CADD version> --genome <GENOME>
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