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Fix and make docs pretty (#433)
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* Fix and make docs pretty

* Update docs/usage.md

Co-authored-by: Daniel Schmitz <[email protected]>

---------

Co-authored-by: Daniel Schmitz <[email protected]>
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fellen31 and Schmytzi authored Oct 18, 2024
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1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -56,6 +56,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#423](https://github.com/genomic-medicine-sweden/nallo/pull/423) - Updated metro map
- [#428](https://github.com/genomic-medicine-sweden/nallo/pull/428) - Changed from using bcftools to SVDB for SV merging
- [#431](https://github.com/genomic-medicine-sweden/nallo/pull/431) - Changed `CITATIONS.md` to `docs/CITATIONS.md`,
- [#433](https://github.com/genomic-medicine-sweden/nallo/pull/433) - Updated docs and README.

### `Removed`

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14 changes: 1 addition & 13 deletions README.md
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**genomic-medicine-sweden/nallo** is a bioinformatics analysis pipeline for long-reads from both PacBio and (targeted) ONT-data, focused on rare-disease. Heavily influenced by best-practice pipelines such as [nf-core/sarek](https://nf-co.re/sarek), [nf-core/raredisease](https://nf-co.re/raredisease), [nf-core/nanoseq](https://github.com/nf-core/nanoseq), [PacBio Human WGS Workflow](https://github.com/PacificBiosciences/pb-human-wgs-workflow-snakemake), [epi2me-labs/wf-human-variation](https://github.com/epi2me-labs/wf-human-variation) and [brentp/rare-disease-wf](https://github.com/brentp/rare-disease-wf).

## Overview

<picture align="center">
<img alt="genomic-medicine-sweden/nallo workflow" src="docs/images/nallo_metromap.png">
</picture>
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--outdir <OUTDIR>
```

For more details and further functionality, please refer to the [usage documentation](https://github.com/genomic-medicine-sweden/nallo/blob/dev/docs/usage.md).

> [!WARNING]
> Please provide pipeline parameters via the CLI or Nextflow `-params-file` option. Custom config files including those provided by the `-c` Nextflow option can be used to provide any configuration _**except for parameters**_;
> see [docs](https://nf-co.re/usage/configuration#custom-configuration-files).
To run in an offline environment, download the pipeline and singularity images using [`nf-core download`](https://nf-co.re/tools/#downloading-pipelines-for-offline-use):

```
nf-core download genomic-medicine-sweden/nallo
```
For more details and further functionality, please refer to the [documentation](http://genomic-medicine-sweden.github.io/nallo/).

## Credits

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31 changes: 15 additions & 16 deletions docs/index.md
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Expand Up @@ -7,24 +7,22 @@ description: A bioinformatics analysis pipeline for long-reads from both PacBio

**genomic-medicine-sweden/nallo** is a bioinformatics analysis pipeline for long-reads from both PacBio and (targeted) ONT-data, focused on rare-disease. Heavily influenced by best-practice pipelines such as [nf-core/sarek](https://nf-co.re/sarek), [nf-core/raredisease](https://nf-co.re/raredisease), [nf-core/nanoseq](https://github.com/nf-core/nanoseq), [PacBio Human WGS Workflow](https://github.com/PacificBiosciences/pb-human-wgs-workflow-snakemake), [epi2me-labs/wf-human-variation](https://github.com/epi2me-labs/wf-human-variation) and [brentp/rare-disease-wf](https://github.com/brentp/rare-disease-wf).

## Overview

<picture align="center">
<img alt="genomic-medicine-sweden/nallo workflow" src="docs/images/nallo_metromap.png">
<img alt="genomic-medicine-sweden/nallo workflow" src="images/nallo_metromap.png">
</picture>

## Pipeline summary

##### QC
### QC

- Read QC with [FastQC](http://www.bioinformatics.babraham.ac.uk/projects/fastqc/), [cramino](https://github.com/wdecoster/cramino) and [mosdepth](https://github.com/brentp/mosdepth)

##### Alignment & assembly
### Alignment & assembly

- Align reads to reference with [minimap2](https://github.com/lh3/minimap2)
- Assemble (trio-binned) haploid genomes with [hifiasm](https://github.com/chhylp123/hifiasm) (HiFi only)

##### Variant calling
### Variant calling

- Call SNVs & joint genotyping with [deepvariant](https://github.com/google/deepvariant) and [GLNexus](https://github.com/dnanexus-rnd/GLnexus)
- Call SVs with [Severus](https://github.com/KolmogorovLab/Severus) or [Sniffles2](https://github.com/fritzsedlazeck/Sniffles)
Expand All @@ -33,25 +31,26 @@ description: A bioinformatics analysis pipeline for long-reads from both PacBio
- Call paralogous genes with [Paraphase](https://github.com/PacificBiosciences/paraphase)
- Call variants from assembly with [dipcall](https://github.com/lh3/dipcall) (HiFi only)

##### Phasing and methylation
### Phasing and methylation

- Phase and haplotag reads with [LongPhase](https://github.com/twolinin/longphase), [whatshap](https://github.com/whatshap/whatshap) or [HiPhase](https://github.com/PacificBiosciences/HiPhase)
- Create methylation pileups with [modkit](https://github.com/nanoporetech/modkit)

##### Annotation
### Annotation

- Annotate SNVs and INDELs with databases of choice, i.e. [gnomAD](https://gnomad.broadinstitute.org), [CADD](https://cadd.gs.washington.edu) etc. with [echtvar](https://github.com/brentp/echtvar) and [VEP](https://github.com/Ensembl/ensembl-vep)
- Annotate repeat expansions with [stranger](https://github.com/Clinical-Genomics/stranger)
- Annotate SVs with [SVDB](https://github.com/J35P312/SVDB) and [VEP](https://github.com/Ensembl/ensembl-vep)

##### Ranking
### Ranking

- Rank SNVs with [GENMOD](https://github.com/Clinical-Genomics/genmod)

## Usage

> [!NOTE]
> If you are new to Nextflow and nf-core, please refer to [this page](https://nf-co.re/docs/usage/installation) on how to set-up Nextflow. Make sure to [test your setup](https://nf-co.re/docs/usage/introduction#how-to-run-a-pipeline) with `-profile test` before running the workflow on actual data.
!!! note

If you are new to Nextflow and nf-core, please refer to [this page](https://nf-co.re/docs/usage/installation) on how to set-up Nextflow. Make sure to [test your setup](https://nf-co.re/docs/usage/introduction#how-to-run-a-pipeline) with `-profile test` before running the workflow on actual data.

Prepare a samplesheet with input data:

Expand All @@ -74,18 +73,18 @@ nextflow run genomic-medicine-sweden/nallo \
--outdir <OUTDIR>
```

For more details and further functionality, please refer to the [usage documentation](https://github.com/genomic-medicine-sweden/nallo/blob/dev/docs/usage.md).
!!!warning

> [!WARNING]
> Please provide pipeline parameters via the CLI or Nextflow `-params-file` option. Custom config files including those provided by the `-c` Nextflow option can be used to provide any configuration _**except for parameters**_;
> see [docs](https://nf-co.re/usage/configuration#custom-configuration-files).
Please provide pipeline parameters via the CLI or Nextflow `-params-file` option. Custom config files including those provided by the `-c` Nextflow option can be used to provide any configuration _**except for parameters**_;see [docs](https://nf-co.re/usage/configuration#custom-configuration-files).

To run in an offline environment, download the pipeline and singularity images using [`nf-core download`](https://nf-co.re/tools/#downloading-pipelines-for-offline-use):

```
nf-core download genomic-medicine-sweden/nallo
```

For more details and further functionality, please refer to the [usage documentation](usage.md).

## Credits

genomic-medicine-sweden/nallo was originally written by Felix Lenner.
Expand All @@ -94,7 +93,7 @@ We thank the following people for their extensive assistance in the development

## Contributions and Support

If you would like to contribute to this pipeline, please see the [contributing guidelines](.github/CONTRIBUTING.md).
If you would like to contribute to this pipeline, please see the [contributing guidelines](https://github.com/genomic-medicine-sweden/nallo/blob/dev/.github/CONTRIBUTING.md).

## Citations

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