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by NoSalt 21 days ago
I want to sequence, but I absolutely do not want any company or government or church to have access to my data. When the author says:

> "I have a VCF, I can run it through tools like VEP, ClinVar, gnomAD, PharmGKB (highly recommend), Gene Inspector, or Claude"

I am assuming my data is now within the hands of some of the very entities I do not want to have access to my data ... true?

1 comments

Untrue in the cases of VEP, ClinVar, gnomAD. These are either offline, open-source tools or databases. You can download or query these and no one would be the wiser.

Claude on the other hand - yeah you are giving your data away. But that step really isn't necessary.

By running a standard pipeline you could get a VCF (File containing the Variants in your genome) and each variant would be annotated. You can check all the annotated genes and figure out if these variants are pathogenic, likely pathogenic, likely not pathogenic or benign.

Very cool ... thank you!