I'm currently designing a workflow to analyze some exome sequencing data (VCF).
Now, I'd like to test this workflow to test it against a 'reference' VCF.
I want to check if my workflow can retrieve the gene(s) that would have been previously found to be involved in a genetic disease (and published )
Do you know where I could find this kind of public VCF ?
(Note: I have the feeling I already asked this kind of question before but can't retrieve it. May be, I asked it on tweeter)
Thanks , but I'm looking for some VCF files where it is known that there is somewhere a mutation causing a genetic disease.
someone here recommended the Jay Shendure proof of concept 12 exome Freeman-Sheldon syndrome data but I cannot find the VCFs for that, if they exist