NGS data: append annotations from HGMD

[lsantome]

Hi all,

Trying to give sense to the big amount of variants detected after exome sequencing, I was figuring out wether is it possible to append HGMD annotations to my VCF data in order to select only those with reported clinical impact.

I've purchased a copy of HGMD pro.

Thank you in advance,

Best

Luis

[GenoMax]

Have you tried to contact BioBase tech support? Since you are referring to a commercial product not many on this forum are likely to have access to HGMD pro.

[lsantome]

Maybe I should do that, but I was confident to get a quickier answer in this forum.

I'll try it!

Thanks,

Luis

[Aquarius]

Hgmd

If you purchased HGMD Professional download version you get the data and can work with e.g. VCF files. But not with the online version.