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update docs, changelog and readme
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Patricie34 committed Dec 4, 2024
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2 changes: 1 addition & 1 deletion CHANGELOG.md
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Expand Up @@ -15,7 +15,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [1660](https://github.com/nf-core/sarek/pull/1642) - Add `--length_required` for minimal reads length with `FASTP`
- [1663](https://github.com/nf-core/sarek/pull/1663) - Massive conda modules update
- [1664](https://github.com/nf-core/sarek/pull/1664) - Check if flowcell ID matches for read pair
- [1680](https://github.com/nf-core/sarek/pull/1682) - Add `bcftools_norm` in `POST_VARIANTCALLING` for normalization of all vcf files or for concatenated germline vcfs
- [1680](https://github.com/nf-core/sarek/pull/1682) - Add `bcftools_norm` in `POST_VARIANTCALLING` for normalization of all vcf files; edit vcf_concatenate_germline subworkflow
- [1730](https://github.com/nf-core/sarek/pull/1730) - Enable Harshil Alignment™️ in VS Code workspace settings

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1 change: 1 addition & 0 deletions README.md
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Expand Up @@ -181,6 +181,7 @@ We thank the following people for their extensive assistance in the development
- [Szilveszter Juhos](https://github.com/szilvajuhos)
- [Tobias Koch](https://github.com/KochTobi)
- [Winni Kretzschmar](https://github.com/winni2k)
- [Patricie Skaláková](https://github.com/Patricie34)

## Acknowledgements

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13 changes: 13 additions & 0 deletions docs/output.md
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Expand Up @@ -855,6 +855,19 @@ Germline VCFs from `DeepVariant`, `FreeBayes`, `HaplotypeCaller`, `Haplotyper`,

</details>

All VCFs from `DeepVariant`, `FreeBayes`, `HaplotypeCaller`, `Haplotyper`, `Manta`, `bcftools mpileup`, `Strelka`, or `Tiddit` are normalized with `bcftools norm`. The field `SOURCE` is added to the VCF header to report the variant caller.

<details markdown="1">
<summary>Normalized VCF-files for normal and tumor samples</summary>

**Output directory: `{outdir}/variantcalling/normalized/<sample>/`**

- `<sample>.<variantcaller>.norm.vcf.gz` and `<sample>.<variantcaller>.norm.vcf.gz.tbi`
- VCF with tabix index

</details>


## Variant annotation

This directory contains results from the final annotation steps: two tools are used for annotation, [snpEff](http://snpeff.sourceforge.net/) and [VEP](https://www.ensembl.org/info/docs/tools/vep/index.html). Both results can also be combined by setting `--tools merge`.
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