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valerianilucrezia committed Jan 7, 2025
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12 changes: 4 additions & 8 deletions README.md
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Expand Up @@ -41,7 +41,7 @@ different strategies will be applied.

- Quality Control (`CNAqc`, `TINC`)
- Variant Annotation (`VEP`, `maftools`)
- Driver Annotation (`SOPRANO`, `dndsCV`)
- Driver Annotation
- Subclonal Deconvolution (`PyClone`, `MOBSTER`, `VIBER`)
- Clone Tree Inference (`ctree`)
- Signature Deconvolution (`SparseSignatures`, `SigProfiler`)
Expand All @@ -57,17 +57,13 @@ First, prepare a samplesheet with your input data that looks as follows:
`samplesheet.csv`:

```csv
dataset,patient,sample,normal_sample,vcf,vcf_tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,S1,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S1/segments.txt,/CNA/patient1/S1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,S2,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S2/segments.txt,/CNA/patient1/S2/purity_ploidy.txt,caller,PANCANCER
dataset,patient,tumour_sample,normal_sample,vcf,tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,sample1,N1,patient1_sample1.vcf.gz,patient1_sample1.vcf.gz.tbi,/CNA/patient1/sample1/segments.txt,CNA/patient1/sample1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,sample2,N1,patient1_sample2.vcf.gz,patient1_sample2.vcf.gz.tbi,/CNA/patient1/sample2/segments.txt,CNA/patient1/sample2/purity_ploidy.txt,caller,PANCANCER
```

-->

Now, you can run the pipeline using:

<!-- TODO nf-core: update the following command to include all required parameters for a minimal example -->

```bash
nextflow run nf-core/tumourevo \
-profile <docker/singularity/.../institute> \
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30 changes: 13 additions & 17 deletions docs/usage.md
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Expand Up @@ -12,20 +12,16 @@ Through the analysis of variant and copy-number calls, it reconstructs the evolu

## Samplesheet input

You will need to create a samplesheet with information about the samples you would like to analyse before running the pipeline. Use this parameter to specify its location. It has to be a comma-separated file with 3 columns, and a header row as shown in the examples below.
You will need to create a samplesheet with information about the samples you would like to analyse before running the pipeline. Use this parameter to specify its location. It has to be a comma-separated file with 10 columns, and a header row as shown in the examples below.

```bash
--input '[path to samplesheet file]'
```

### Full samplesheet

/_The pipeline will auto-detect whether a sample is single- or paired-end using the information provided in the samplesheet.
The samplesheet can have as many columns as you desire, however, there is a strict requirement for the first 3 columns to
The samplesheet can have as many columns as you desire, however, there is a strict requirement for the first 10 columns to
match those defined in the table below.
_/

You will need to create a samplesheet with information about the samples you would like to analyse before running the pipeline. Use the parameter `--input` to specify its location. It has to be a comma-separated file with at least 5 columns, and a header row as shown in the examples below.

It is recommended to use the absolute path of the files, but a relative path should also work.

Expand All @@ -42,9 +38,9 @@ Output from different workflows, subworkflows and modules will be in a specific
A minimal input sample sheet example for two samples from the same patient:

```csv title="samplesheet.csv"
dataset,patient,sample,normal_sample,vcf,vcf_tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,S1,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S1/segments.txt,/CNA/patient1/S1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,S2,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S2/segments.txt,/CNA/patient1/S2/purity_ploidy.txt,caller,PANCANCER
dataset,patient,tumour_sample,normal_sample,vcf,tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,sample1,N1,patient1_sample1.vcf.gz,patient1_sample1.vcf.gz.tbi,/CNA/patient1/sample1/segments.txt,CNA/patient1/sample1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,sample2,N1,patient1_sample2.vcf.gz,patient1_sample2.vcf.gz.tbi,/CNA/patient1/sample2/segments.txt,CNA/patient1/sample2/purity_ploidy.txt,caller,PANCANCER
```

#### Overview: Samplesheet Columns
Expand Down Expand Up @@ -102,10 +98,10 @@ nextflow run nf-core/tumourevo \

Minimal input file, two samples from the same patient:

```bash
dataset,patient,sample,normal_sample,vcf,vcf_tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,S1,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S1/segments.txt,/CNA/patient1/S1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,S2,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S2/segments.txt,/CNA/patient1/S2/purity_ploidy.txt,caller,PANCANCER
```csv
dataset,patient,tumour_sample,normal_sample,vcf,tbi,cna_segments,cna_extra,cna_caller,cancer_type
dataset1,patient1,sample1,N1,patient1_sample1.vcf.gz,patient1_sample1.vcf.gz.tbi,/CNA/patient1/sample1/segments.txt,CNA/patient1/sample1/purity_ploidy.txt,caller,PANCANCER
dataset1,patient1,sample2,N1,patient1_sample2.vcf.gz,patient1_sample2.vcf.gz.tbi,/CNA/patient1/sample2/segments.txt,CNA/patient1/sample2/purity_ploidy.txt,caller,PANCANCER
```

##### 2. Single sample variant calling
Expand All @@ -114,10 +110,10 @@ If the variant calling performed independently on each sample, even if coming fr

Input file for two patients without joint variant calling, bam files available:

```bash
dataset,patient,sample,normal_sample,vcf,vcf_tbi,cna_segments,cna_extra,cna_caller,cancer_type,tumour_bam,tumour_bai
dataset1,patient1,S1,N1,patient1_S1.vcf.gz,patient1_S1.vcf.gz.tbi,/CNA/patient1/S1/segments.txt,/CNA/patient1/S1/purity_ploidy.txt,caller,PANCANCER,patient1/BAM/S1.bam,patient1/BAM/S1.bam.bai
dataset1,patient1,S2,N1,patient1_S2.vcf.gz,patient1_S2.vcf.gz.tbi,/CNA/patient1/S2/segments.txt,/CNA/patient1/S2/purity_ploidy.txt,caller,PANCANCER,,patient1/BAM/S2.bam,patient1/BAM/S2.bam.bai
```csv
dataset,patient,tumour_sample,normal_sample,vcf,tbi,cna_segments,cna_extra,cna_caller,cancer_type,tumour_alignment,tumour_alignment_index
dataset1,patient1,sample1,N1,patient1_sample1.vcf.gz,patient1_sample1.vcf.gz.tbi,/CNA/patient1/sample1/segments.txt,CNA/patient1/sample1/purity_ploidy.txt,caller,PANCANCER,patient1/BAM/sample1.bam,patient1/BAM/sample1.bam.bai
dataset1,patient1,sample2,N1,patient1_sample2.vcf.gz,patient1_sample2.vcf.gz.tbi,/CNA/patient1/sample2/segments.txt,CNA/patient1/sample2/purity_ploidy.txt,caller,PANCANCER,patient1/BAM/sample2.bam,patient1/BAM/sample2.bam.bai
```

If you can not include the bam files in the input csv, the pipeline will run anyway, treating each sample as independent.
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