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5.2 years ago
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Hello,
does anyone here use the HGMD pro flat file? Can I know the format of the flat file and if I can incorporate it within annovar for variant annotation?
Many thanks
Could you provide an example how this file looks like? Where in HGMD can I obtain such a file?
@finswimmer, I do not know how the file looks like - hence the question. I would like to know the file format and if its compatible to use in such annotation tools. I have been asked to incorporate this into our variant annotation pipeline and HGMD pro licence is not free, so before we apply, I wanted to know if anyone has done this already.
HGMD pro subscriptions are pricey so not many on biostars are likely to have access. You can ask your sales rep/tech support for an example, if you are thinking of purchasing a license.
I thought so... Okay, I'll try getting in touch with HGMD.
HGMD (less up to date version) is available for free for academic users. I assume that uses the same file format as the pro version. You could try that out (if you are an academic user) as an option.
tried that - there is no download option for files there
Are you referring to a dump of the entire HGMD pro? That is something only big pharmas can afford AFAIK.