WGLab / doc-ANNOVAR

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

prediction of novel variants #108

Closed bushrabibi closed 4 years ago

bushrabibi commented 4 years ago

Hi everyone, What does "." dot represents in dbSNP column of Annovar output, does it verifies novel variants? How can we identify novel variants from annovar output. Your suggestion will be really appreaciated. Thanks,

kaichop commented 4 years ago

It means not in dbSNP.

On Sat, Sep 12, 2020 at 5:21 AM bushrabibi notifications@github.com wrote:

Hi everyone, What does "." dot represents in dbSNP column of Annovar output, does it verifies novel variants? How can we identify novel variants from annovar output. Your suggestion will be really appreaciated. Thanks,

— You are receiving this because you are subscribed to this thread. Reply to this email directly, view it on GitHub https://github.com/WGLab/doc-ANNOVAR/issues/108, or unsubscribe https://github.com/notifications/unsubscribe-auth/ABNG3OHQQZPG6SNPE6QJGX3SFM4TBANCNFSM4RJI5CNA .

kaichop commented 4 years ago

you can use a few filter databases including gnomad (exome and genome) to find variants that are not reported before.

On Sat, Sep 12, 2020 at 11:56 AM Kai Wang kaichop@gmail.com wrote:

It means not in dbSNP.

On Sat, Sep 12, 2020 at 5:21 AM bushrabibi notifications@github.com wrote:

Hi everyone, What does "." dot represents in dbSNP column of Annovar output, does it verifies novel variants? How can we identify novel variants from annovar output. Your suggestion will be really appreaciated. Thanks,

— You are receiving this because you are subscribed to this thread. Reply to this email directly, view it on GitHub https://github.com/WGLab/doc-ANNOVAR/issues/108, or unsubscribe https://github.com/notifications/unsubscribe-auth/ABNG3OHQQZPG6SNPE6QJGX3SFM4TBANCNFSM4RJI5CNA .

bushrabibi commented 4 years ago

Thanks for your response Kaichop!