Back

freebayes

freebayes

Description

FreeBayes is a genetic variant detector designed to find small polymorphisms (SNPs , indels , MNPs and complex events).

FreeBayes is haplotype-based, in the sense that it calls variants based on the literal sequences of reads aligned to a particular target, not their precise alignment. This model is a straightforward generalization of previous ones (e.g. PolyBayes, samtools, GATK) which detect or report variants based on alignments. This method avoids one of the core problems with alignment-based variant detection--- that identical sequences may have multiple possible alignments:

FreeBayes uses short-read alignments (BAM files) for any number of individuals from a population and a reference genome to determine the most-likely combination of genotypes for the population at each position in the reference. It reports positions which it finds putatively polymorphic in variant call file (VCF) format. It can also use an input set of variants (VCF) as a source of prior information, and a copy number variant map (BED) to define non-uniform ploidy variation across the samples under analysis.


Available

Version on CSC's Servers

Version 1.1.0-60 is available in Taito


Usage

FreeBayes installation can be activated in Taito with commands

module load biokit/4.9.3

After this you can launch the tool. Eg.

freebayes -f reference.fa input.bam > results.vcf

To speed up FreeBayes analysis, you can run the analysis as a set of parallel FreeBayes jobs by using a regions file and freebayes-taito tool.

First define a regions file with command

fasta_generate_regions.py reference.fa.fai 100000 > regions.txt

For small datasets you may decrease the region size in the command above so that  you will get more than 200 regions to the regions file.

Once you have the regions file created you can launch you analysis task with command like:

freebayes-taito -regions regions.txt -f reference.fa input.bam -out results.vcf

or

freebayes-taito-big -regions regions.txt -f reference.fa input.bam -out results.vcf

The freebayes-taito help tools will execute your freebayes analysis as an automatically generated array batch job. The results will also be automatically merged and sorted once the batch jobs have finished. The freebayes-taito allows each subjob to use 16 GB of memory and to run for two days. For massive freebayes jobs this may not be sufficient. In that case you can try to use freebayes-taito-big that reserves 64 GB of memory and three days of running time for each subjob.

 

 

 

 


Discipline

Biosciences

References


Support


Manual