File format for HGMD pro file flat
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2.9 years ago
NB ▴ 930

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

HGMD annovar variant analysis file format • 997 views
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Could you provide an example how this file looks like? Where in HGMD can I obtain such a file?

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@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.

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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.

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I thought so... Okay, I'll try getting in touch with HGMD.

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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.

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tried that - there is no download option for files there

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Are you referring to a dump of the entire HGMD pro? That is something only big pharmas can afford AFAIK.

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