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lucia.pena.perez@scilifelab.se committed Nov 1, 2023
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Expand Up @@ -27,25 +27,25 @@ The pipeline is built using [Nextflow](https://www.nextflow.io), a workflow tool
2. Transcript quantification ([`Salmon`](https://salmon.readthedocs.io/en/latest/))
3. Align reads to the genome ([`STAR`](https://github.com/alexdobin/STAR))
4. Output junction tracks
5. Output bigwig [`UCSC wigToBigWig`](https://genome.ucsc.edu/goldenPath/help/bigWig.html))
5. Output bigwig ([`UCSC wigToBigWig`](https://genome.ucsc.edu/goldenPath/help/bigWig.html))
6. Choice to subsample overrepresented regions ([`Samtools`](https://github.com/samtools/samtools/))
7. Choice to downsample number of reads ([`Samtools`](https://github.com/samtools/samtools/))
8. Detection of aberrant expression ([`DROP`](https://github.com/gagneurlab/drop/))
9. Detection of aberrant splicing ([`DROP`](https://github.com/gagneurlab/drop/))
10. Filter aberrant expression and aberrant splicing results
11. Guided transcript assembly ([`StringTie`](https://ccb.jhu.edu/software/stringtie/))
12. Filtering results of guided transcript assembly ([`GffCompare`] (https://github.com/gpertea/gffcompare))
12. Filtering results of guided transcript assembly ([`GffCompare`](https://github.com/gpertea/gffcompare))
13. To Call SNVs either path a or b can be followed. Path A will run by default
a. Call SNVs
14. ([`BCFtools Mpileups`] (https://samtools.github.io/bcftools/bcftools.html#mpileup))
14. ([`BCFtools Mpileups`](https://samtools.github.io/bcftools/bcftools.html#mpileup))
15. b. Call SNVs
1. Split cigar reads ([`SplitN Cigar Reads`] (https://gatk.broadinstitute.org/hc/en-us/articles/360036858811-SplitNCigarReads))
2. Haplotype caller ([`Haplotype Caller`] (https://gatk.broadinstitute.org/hc/en-us/articles/360037225632-HaplotypeCaller))
3. Variant filtration ([`Variant Filtration`] (https://gatk.broadinstitute.org/hc/en-us/articles/360037434691-VariantFiltration))
4. BCFtools statistics ([`BCFtools stats`] (https://samtools.github.io/bcftools/bcftools.html#stats))
16. Allele Specific Read Counter ([`ASEReadCounter`] (https://gatk.broadinstitute.org/hc/en-us/articles/360037428291-ASEReadCounter))
17. Asses allelic inbalance ([`BootstrapAnn`] (https://github.com/J35P312/BootstrapAnn#bootstrapann))
18. Annotation ([`VEP`] (https://github.com/Ensembl/ensembl-vep))
1. Split cigar reads ([`SplitN Cigar Reads`](https://gatk.broadinstitute.org/hc/en-us/articles/360036858811-SplitNCigarReads))
2. Haplotype caller ([`Haplotype Caller`](https://gatk.broadinstitute.org/hc/en-us/articles/360037225632-HaplotypeCaller))
3. Variant filtration ([`Variant Filtration`](https://gatk.broadinstitute.org/hc/en-us/articles/360037434691-VariantFiltration))
4. BCFtools statistics ([`BCFtools stats`](https://samtools.github.io/bcftools/bcftools.html#stats))
16. Allele Specific Read Counter ([`ASEReadCounter`](https://gatk.broadinstitute.org/hc/en-us/articles/360037428291-ASEReadCounter))
17. Asses allelic inbalance ([`BootstrapAnn`](https://github.com/J35P312/BootstrapAnn#bootstrapann))
18. Annotation ([`VEP`](https://github.com/Ensembl/ensembl-vep))
19. Alignment QC ([`Picard CollectRnaSeqMetrics`](https://broadinstitute.github.io/picard/))
20. Present QCs ([`MultiQC`](http://multiqc.info/))

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## Credits

tomte was originally written by Clinical Genomics Stockholm.
genomic-medicine-sweden/tomte was written by Clinical Genomics Stockholm, Sweden, with major contributions from [Lucía Peña-Pérez](https://github.com/Lucpen), [Anders Jemt](https://github.com/jemten), and [Jesper Eisfeldt](https://github.com/J35P312).

We thank the following people for their extensive assistance in the development of this pipeline:
Additional contributors were [Ramprasad Neethiraj](https://github.com/ramprasadn), [Esmee ten Berk de Boer](https://github.com/Esmeetbdb), and [Mei Wu](https://github.com/projectoriented).

<!-- TODO nf-core: If applicable, make list of people who have also contributed -->
We thank the nf-core community for their extensive assistance in the development of this pipeline.

## Contributions and Support

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## Citations

<!-- TODO nf-core: Add citation for pipeline after first release. Uncomment lines below and update Zenodo doi and badge at the top of this file. -->
<!-- If you use nf-core/tomte for your analysis, please cite it using the following doi: [10.5281/zenodo.XXXXXX](https://doi.org/10.5281/zenodo.XXXXXX) -->

<!-- TODO nf-core: Add bibliography of tools and data used in your pipeline -->
If you use nf-core/raredisease for your analysis, please cite it using the following doi: [10.5281/zenodo.7995798](https://doi.org/10.5281/zenodo.7995798)

An extensive list of references for the tools used by the pipeline can be found in the [`CITATIONS.md`](CITATIONS.md) file.

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