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how search in clinvar offline

Hello,

I downloaded the Clinvar database from here: ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/

I need to do very fast searches, integrated in a pipeline. I saw that there are files with different formats and versions, but I do not know exactly where to look for the clinical significance of my variants.

Has anyone already gone through this?

thank you.

regards

clinvar offline
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written by mauribrunner • mauribrunner

1 answer

You can query the VCF files efficiently by coordinates using its index via tabix.

• 0 views • link
written by ATpoint ATpoint

Thank you very much for your answer, I tried it and it worked correctly. Anyway, I'm left wondering why there are so many files when the database is downloaded (xml files for example). regards!

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written by mauribrunner • mauribrunner

That is all kinds of metadata and/or annotations.

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written by ATpoint ATpoint

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