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# Snakemake workflow: `Bioinfo_Macro_Host_Genomics` | ||
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[![Snakemake](https://img.shields.io/badge/snakemake-≥6.3.0-brightgreen.svg)](https://snakemake.github.io) | ||
[![GitHub actions status](https://github.com/3d-omics/Bioinfo_Macro_Host_Genomics/workflows/Tests/badge.svg?branch=main)](https://github.com/3d-omics/Bioinfo_Macro_Host_Genomics/actions?query=branch%3Amain+workflow%3ATests) | ||
# Snakemake workflow: `hg_genotype` | ||
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[![Snakemake](https://img.shields.io/badge/snakemake-≥8-brightgreen.svg)](https://snakemake.github.io) | ||
[![Tests](https://github.com/3d-omics/hg_genotype/actions/workflows/main.yml/badge.svg)](https://github.com/3d-omics/hg_genotype/actions/workflows/main.yml) | ||
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A Snakemake workflow for Short Variant Discovery in Host Genomes | ||
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## Usage | ||
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- Test that it works: | ||
- Make sure you have installed snakemake, samtools and bcftools. Either | ||
- install them with conda/mamba :`conda install -c bioconda samtools bcftools`). | ||
- or create an environment (`conda create -n 3dohg -c bioconda snakemake samtools bcftools`), and activate it (`conda activate 3dohg`) | ||
- Generate mock data with `bash workflow/scripts/generate_mock_data.sh` | ||
- Run the pipeline: `snakemake --use-conda --jobs 8 all`. It will download all the necesary software through conda. It should take less than 5 minutes. | ||
- Make sure you have installed `snakemake>=8` | ||
- Run the pipeline: `snakemake --use-conda --profile profile/default --jobs 100`. It will download all the necesary software through conda. It should take less than 5 minutes. | ||
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- Run it with your own data: | ||
- Edit `config/samples.tsv` and add your samples and where are they located. | ||
- Edit `config/features.tsv` with information regarding the reference you are using. | ||
- Run the pipeline: `snakemake --use-conda --jobs 8 all`. | ||
- (slurm users): `./run_slurm` | ||
- Run the pipeline: `snakemake --use-conda --profile profile/default --jobs 8 all`. | ||
- If you are in a cluster with slurm, add `--executor slurm`. | ||
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## Features | ||
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- FASTQ processing with [`fastp`](https://github.com/OpenGene/fastp) | ||
- Mapping with [`bowtie2`](https://github.com/BenLangmead/bowtie2) | ||
- SAM/BAM/CRAM processing with [`samtools`](https://github.com/samtools/samtools) and [`picard`](https://github.com/broadinstitute/picard) | ||
- Sample swap detection with [`gtcheck`](https://github.com/samtools/bcftools) | ||
- SNP calling with [`GATK4`](https://github.com/broadinstitute/gatk) | ||
- SNP annotation with [`SNPEff`](https://github.com/pcingola/SnpEff) | ||
- FASTQ processing with `fastp`. | ||
- Mapping with `bwa-mem2` | ||
- SAM/BAM/CRAM processing with `samtools` and `GATK`. | ||
- SNP calling with `GATK4`. | ||
- SNP annotation with `SNPEff` and `VEP` | ||
- Sample swap detection with `somalier`. | ||
- Reporting with `MultiQC`. | ||
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## DAG | ||
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![host_genomics_pipeline](./rulegraph.svg?raw=true) | ||
![host_genomics_pipeline](./schema.svg?raw=true) | ||
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## References | ||
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TBA | ||
- [`fastp`](https://github.com/OpenGene/fastp) | ||
- [`bwa-mem2`](https://github.com/bwa-mem2/bwa-mem2) | ||
- [`samtools`](https://github.com/samtools/samtools) | ||
- [`GATK`](https://github.com/broadinstitute/gatk) | ||
- [`SNPEff`](https://github.com/pcingola/SnpEff) | ||
- [`VEP`](https://github.com/Ensembl/ensembl-vep) | ||
- [`somalier`](https://github.com/brentp/somalier) | ||
- [`MultiQC`](https://github.com/MultiQC/MultiQC) |