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Old 03-24-2016, 08:35 AM   #2
Senior Member
Location: Montreal

Join Date: May 2013
Posts: 367

No need to reinvent the wheel, and write your own script.

Just download the ClinVar variants in the VCF format, and use SnpSift Annotate to annotate your own VCF file with the downloaded VCF file.

I did it a long time ago, and I seem to remember having a problem with this method not taking into account the base change, only the coordinates of the mutation, so I ended up having to write my own R script. Since this was a year or two ago, this bug may have been resolved.

Last edited by blancha; 03-24-2016 at 08:38 AM.
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