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# VarGeno
Fase SNP genotyping tool for whole genome sequencing data and large SNP database.

# Prerequisites
- A modern, C++11 ready compiler, such as `g++` version 4.9 or higher.
- The cmake build system (*only necessary to install SDSL library. If SDSL library already installed, cmake is not needed*)
- A 64-bit operating system. Either Mac OS X or Linux are currently supported.
# Install from Bioconda
VarGeno can be installed from Bioconda with command `conda install vargeno`.

# Quick Install
```
git clone https://github.com/medvedevgroup/vargeno.git
cd vargeno
export PREFIX=$HOME
bash ./install.sh
```
You should then see `vargeno` in vargeno directory. To verify that your installation is correct, you can run the toy example below.
Go to [this link](https://bioconda.github.io/#using-bioconda) for more information about Bioconda.

If you do not have Bioconda installed, you can [install VarGeno from source code](#install-from-source-code).

# Quick Usage

Expand Down Expand Up @@ -43,23 +36,38 @@ VarGeno's genotyping results are in the "FORMAT" column of VCF file.

For details of "GT" and "GQ" fields, please refer to [The Variant Call Format(VCF) Version 4.2 Specification](https://samtools.github.io/hts-specs/VCFv4.2.pdf).

# Example
# Install from Source Code

In this example, we genotype 100 SNPs on human chromosome 22 with a small subset of 1000 Genome Project Illumina sequencing reads. The whole process should finish in around a minute and requries 34 GB RAM. Suppose VarGeno is installed in directory `$VARGENO`.
### Prerequisites
- A modern, C++11 ready compiler, such as `g++` version 4.9 or higher.
- The cmake build system (*only necessary to install SDSL library. If SDSL library already installed, cmake is not needed*)
- A 64-bit operating system. Either Mac OS X or Linux are currently supported.

1. go to test data directory
### Install Command
```
cd $VARGENO/test
git clone https://github.com/medvedevgroup/vargeno.git
cd vargeno
export PREFIX=$HOME
bash ./install.sh
```
You should then see `vargeno` in vargeno directory. To verify that your installation is correct, you can run the toy example below.

# Example

The example dataset is in [https://github.com/medvedevgroup/vargeno/tree/master/test](https://github.com/medvedevgroup/vargeno/tree/master/test) .

In this example, we genotype 100 SNPs on human chromosome 22 with a small subset of 1000 Genome Project Illumina sequencing reads. The whole process should finish in around a minute and requries 34 GB RAM.

1. go to test data directory

2. pre-process the reference and SNP list to generate indices:
```
$VARGENO/vargeno index chr22.fa snp.vcf test_prefix
vargeno index chr22.fa snp.vcf test_prefix
```

3. genotype variants:
```
$VARGENO/vargeno geno test_prefix reads.fq snp.vcf genotyped.vcf
vargeno geno test_prefix reads.fq snp.vcf genotyped.vcf
```

# Memory Lite Version
Expand Down

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