WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software
http://annovar.openbioinformatics.org
234 stars 359 forks source link

parse clinvar xml by annovar #189

Closed asmlgkj closed 2 years ago

asmlgkj commented 2 years ago

thanks a lot for this excellent tool due to the frequent update of clinvar, and vcf contains too little few info, for example, variant id(not allele id) and pmid, though there was separately files contains such, so does annovar can parse clinvar xlm?

kaichop commented 2 years ago

It does not process XLM file. But there was a recent update clinvar_20220320 that you can use. I am not sure what is a variant ID, in general the best way to identify a variant is the chr and position, not an ID. Most variants in clinvar has no PMID, since they are direct submissions.

On Tue, Apr 26, 2022 at 5:31 AM curry_fan @.***> wrote:

thanks a lot for this excellent tool due to the frequent update of clinvar, and vcf contains too little few info, for example, variant id(not allele id) and pmid, though there was separately files contains such, so does annovar can parse clinvar xlm?

— Reply to this email directly, view it on GitHub https://github.com/WGLab/doc-ANNOVAR/issues/189, or unsubscribe https://github.com/notifications/unsubscribe-auth/ABNG3OB2HK4SBFIE6Z6YY3TVG6ZYTANCNFSM5ULGZI6A . You are receiving this because you are subscribed to this thread.Message ID: @.***>

asmlgkj commented 2 years ago

image it was here variant ID, I have found a file about that, thanks a lot