Software to identify and classify disease-relevant variants

Question

[dominik.saburo]

Hi there!

I'm new here so please be forgiving for my questions :)

I have problems with finding mutations in my vcf. file because Illumina Variant Studio is now only comercial and we do not have funds to buy such software...

Is there any alternative software which will have similiar options/features as Illumina Variant Studio?

I have recently found a VCF Explorer but it hasn't got for example Sift or PolyPhen raports. If someone is more experienced in this program please help :)

Answer 1

[Vivek]

You can try using variant effect predictor online, it might not be as comprehensive or tailor made for your needs but its pretty comprehensive for VCF annotation and prioritization.

http://www.ensembl.org/info/docs/tools/vep/index.html

Answer 2

[dominik.saburo]

I have tried already such things like Phenix Phenotype and unfortunately the answer for my query was not as I expected. I will try this online tool which you have mentioned! Thx!

Is there any desktop software which could be similiar to Illumina Variant Studio?

[WouterDeCoster]

Please use ADD COMMENT to answer to earlier replies, as such this thread remains logically structured and easy to follow.