Question: Insert mutations in a reference genome from a vcf
gravatar for IP
8 months ago by
Denmark/University of Copenagen
IP590 wrote:

Hi Biostars,

I am looking for a tool to introduce variants in a reference genome.

The ideal tool I am looking for:

Takes as input:

  • genome fasta

  • a vcf file

What it does:

  • Insert some of the variants (randomly) present in the vcf into the reference genome

What is the output

  • The ideal output would be a mutated new reference fasta, and a vcf file (The vcf file is not that important).

The reason I am looking for this is because I am working on simulation tool, but I would be happy to rely on a third party software to introduce the mutations.


sequencing snp simulation • 358 views
ADD COMMENTlink modified 8 months ago by WouterDeCoster41k • written 8 months ago by IP590

use consensus from bcftools. IP

copy/pasted from manual:

# Apply variants present in sample "NA001", output IUPAC codes for hets
bcftools consensus -i -s NA001 -f in.fa in.vcf.gz > out.fa
ADD REPLYlink modified 8 months ago • written 8 months ago by cpad011212k
gravatar for genomax
8 months ago by
United States
genomax73k wrote:

Not exactly what you are asking but if you are not wedded to specific vcf files then you could go the other way by using from BBMap suite. Lots of processing parameters you can control.


Written by Brian Bushnell
Last modified December 13, 2018

Description:  Creates a mutant version of a genome.

Usage: in=<input file> out=<output file> id=<identity>
I/O parameters:
in=<file>       Input genome.
out=<file>      Output mutant genome.
vcf=<file>      VCF file showing variants added.
ADD COMMENTlink modified 8 months ago • written 8 months ago by genomax73k

I have test this tool, and it is doing (ultrafastly!) what I was looking for. Thanks!

ADD REPLYlink written 8 months ago by IP590
gravatar for WouterDeCoster
8 months ago by
WouterDeCoster41k wrote:

GATK FastaAlternateReferenceMaker does almost what you want, selecting randomly some variants is something you'll have to handle.

ADD COMMENTlink written 8 months ago by WouterDeCoster41k
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