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Where to download a complete Homo sapiens reference genome in gene bank (.gbk) and its.gff annotation to run SNPEff?

Where to download a complete Homo sapiens reference genome in gene bank (.gbk) and its .gff annotation to run SNPEff on a VCF coming from the Illumina whole genome alignment and variant calling. I have run VEP and wAnnowar on that VCF now want to run SNPEff on it. Could find only genebank .and ,gff3 files of a separate chromosomes.

snpeff human reference genbank annotation
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written by cambridge_hockey • cambridge_hockey

Why not merge the per-chromosome files then?

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written by Devon Ryan Devon Ryan

I'd suggest taking a look at the documentation for snpEff here:

http://snpeff.sourceforge.net/SnpEff_manual.html#run

There should be no need to download the .gbk file or the gff3 file. snpEff has pre-built annotation packages for multiple versions of the human genome. However, perhaps I am misunderstanding or there is some special circumstance.

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written by Sean Davis Sean Davis

Hello cambridge_hockey!

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Not a real question

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written by Michael Dondrup Michael Dondrup

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