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Update README.md
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mfiorini9 authored May 31, 2024
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Expand Up @@ -100,13 +100,50 @@ bash $Ensemblux_HOME/launch_ensemblux.sh -d $Ensemblux_PWD --step init-noGT
```

---
#### Step 2: Preparation of input files
## Step 2: Preparation of input files
**Demultiplexing pooled cells _with_ prior genotype information**
The following files are required:

|File|Description|
|:--|:--|
|**gene_expression.bam**|Gene expression bam file of the pooled samples (e.g., 10X Genomics possorted_genome_bam.bam)|
|**gene_expression.bam.bai**|Gene expression bam index file of the pooled samples (e.g., 10X Genomics possorted_genome_bam.bam.bai)|
|**barcodes.tsv**|Barcodes tsv file of the pooled cells (e.g., 10X Genomics barcodes.tsv)|
|**pooled_samples.vcf**|vcf file describing the genotypes of the pooled samples|
|**genome_reference.fa**|Genome reference fasta file (e.g., 10X Genomics genome.fa)|
|**genome_reference.fa.fai**|Genome reference fasta index file (e.g., 10X Genomics genome.fa.fai)|
|**genotype_reference.vcf**|Population reference vcf file (e.g., 1000 Genomes Project)|

```
## Define all of the required files
BAM=/path/to/possorted_genome_bam.bam
BAM_INDEX=/path/to/possorted_genome_bam.bam.bai
BARCODES=/path/to/barcodes.tsv
SAMPLE_VCF=/path/to/pooled_samples.vcf
REFERENCE_VCF=/path/to/genotype_reference.vcf
REFERENCE_FASTA=/path/to/genome.fa
REFERENCE_FASTA_INDEX=/path/to/genome.fa.fai
## Define the path to the working directory
Ensemblux_PWD=/path/to/working_directory
## Copy the files to the input_files directory in the working directory
cp $BAM $Ensemblux_PWD/input_files/pooled_bam.bam
cp $BAM_INDEX $Ensemblux_PWD/input_files/pooled_bam.bam.bai
cp $BARCODES $Ensemblux_PWD/input_files/pooled_barcodes.tsv
cp $SAMPLE_VCF $Ensemblux_PWD/input_files/pooled_samples.vcf
cp $REFERENCE_VCF $Ensemblux_PWD/input_files/reference.vcf
cp $REFERENCE_FASTA $Ensemblux_PWD/input_files/reference.fa
cp $REFERENCE_FASTA_INDEX $Ensemblux_PWD/input_files/reference.fa.fai
```

**Demultiplexing pooled cells _without_ prior genotype information**

---
#### Step 3: Genetic demultiplexing by constituent tools
## Step 3: Genetic demultiplexing by constituent tools

---
#### Step 4: Application of Ensemblex
## Step 4: Application of Ensemblex

---
#### Contributing
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