diff --git a/README.md b/README.md index ae1607a..817b349 100644 --- a/README.md +++ b/README.md @@ -19,53 +19,54 @@ ## Introduction -**nf-core/pacvar** is a bioinformatics pipeline that ... +**nf-core/pacvar** is a bioinformatics pipeline that processes long read pacbio data. Specifically the pipeline contains two workflows, one to process whole genome sequence data and other to process reads from the PureTarget expansion panel Pacbio offers - this repeat workflow characterizes tandem repeats. The workflow, is designed for pacbio reads and thus uses Pacbio's released tools. - +![nf-core/rnaseq metro map](docs/images/metro_update.svg) - - +1. Demultiplex reads ([`lima`](https://lima.how)) +2. Align reads ([`lima`](https://github.com/PacificBiosciences/pbmm2)) +3. Sort and Index alignments ([`SAMtools`](https://sourceforge.net/projects/samtools/files/samtools/)) -1. Read QC ([`FastQC`](https://www.bioinformatics.babraham.ac.uk/projects/fastqc/)) -2. Present QC for raw reads ([`MultiQC`](http://multiqc.info/)) +wgs workflow +1. Choice of SNP calling routes: + a. ([`deepvariant`](https://github.com/google/deepvariant)) + b. ([`HaplotypeCaller`](https://gatk.broadinstitute.org/hc/en-us/articles/360037225632-HaplotypeCaller)) +2. Call SVs ([`pbsv`](https://github.com/PacificBiosciences/pbsv)) +3. Index VCF files ([`bcftools`](https://samtools.github.io/bcftools/bcftools.html)) +4. Phase SNPS, SVs and BAM files ([`hiphase`](https://github.com/PacificBiosciences/HiPhase)) -## 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. +repeat workflow +1. Genotype tandem repeats - produce spanning bams and vcf ([`TRGT`](https://github.com/PacificBiosciences/trgt)) +2. Index and Sort tandem tepeat spanning bam ([`SAMtools`](https://sourceforge.net/projects/samtools/files/samtools/)) +3. Plot repeat motif plots ([`TRGT`](https://github.com/PacificBiosciences/trgt)) +4. Sort spanning VCF ([`bcftools`](https://samtools.github.io/bcftools/bcftools.html)) - Now, you can run the pipeline using: - - ```bash nextflow run nf-core/pacvar \ -profile \ --input samplesheet.csv \ - --outdir + --outdir \ + --workflow \ + --barcodes barcode.fasta \ + --intervals intervals.bed ``` - +optional paramaters include: --skip_demultiplexing, --skip_snp --skip_sv --skip_phase > [!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). @@ -84,8 +85,6 @@ nf-core/pacvar was originally written by Tanya Sarkin Jain. We thank the following people for their extensive assistance in the development of this pipeline: - - ## Contributions and Support If you would like to contribute to this pipeline, please see the [contributing guidelines](.github/CONTRIBUTING.md). @@ -97,8 +96,6 @@ For further information or help, don't hesitate to get in touch on the [Slack `# - - An extensive list of references for the tools used by the pipeline can be found in the [`CITATIONS.md`](CITATIONS.md) file. You can cite the `nf-core` publication as follows: