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vasicek58 authored Jul 8, 2024
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Expand Up @@ -6,12 +6,12 @@ A database created using ProHap on the 1000 Genomes Project data set can be foun
## Input & Usage
Below is a brief overview, for details on input file format and configuration, please refer to the [Wiki page](https://github.com/ProGenNo/ProHap/wiki/Input-&-Usage).

Required ingredients:
Required input:
- For ProHap: VCF with phased genotypes, one file per chromosome \(such as [1000 Genomes Project](http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20220422_3202_phased_SNV_INDEL_SV/) - downloaded automatically by Snakemake if URL is provided\)
- For ProVar: VCF, single file per dataset. Multiple VCF files can be processed by ProVar in the same run.
- GTF annotation file (Ensembl - downloaded automatically by Snakemake)
- cDNA FASTA file (Ensembl - downloaded automatically by Snakemake)
- (optional) ncRNA FASTA file (Ensembl - downloaded automatically by Snakemake)
- For ProHap: VCF with phased genotypes, one file per chromosome \(such as [1000 Genomes Project](http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20220422_3202_phased_SNV_INDEL_SV/) - downloaded automatically by Snakemake\)
- For ProVar: VCF, single file per dataset

Required software: [Snakemake](https://snakemake.readthedocs.io/en/stable/) & [Conda](https://docs.conda.io/en/latest/). ProHap was tested with Ubuntu 22.04.3 LTS. Windows users are encouraged to use the [Windows Subsystem for Linux](https://ubuntu.com/desktop/wsl).

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Usage:
1. Clone this repository: `git clone https://github.com/ProGenNo/ProHap.git; cd ProHap/;`
2. Create a configuration file called `config.yaml` using https://progenno.github.io/ProHap/. Please refer to the [Wiki page](https://github.com/ProGenNo/ProHap/wiki/Input-&-Usage) for details.
3. Test Snakemake with a dry-run: `snakemake --ccores <# provided cores> -n -q`
3. Test Snakemake with a dry-run: `snakemake --cores <# provided cores> -n -q`
4. Run the Snakemake pipeline to create your protein database: `snakemake --ccores <# provided cores> -p --use-conda`

### Example: ProHap on 1000 Genomes
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