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WGLab / InterVar

A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
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Can I use ExAC database for PM2? #40

Open oghzzang opened 5 years ago

oghzzang commented 5 years ago

Hi.

I appreciate your efforts to make this amazing tool.

I want to use ExAC database for detecting PM2.

But in InterVar, 1000g is default.

Can I add ExAC database? How?

I added "exac03nonntcga" to "database_names" in config.ini, but it is only able to check whether there is exac data in humandb.

Isn't it?

Thanks

Oh.

quanliustc commented 5 years ago

For PM2, Intervar not only check 1000g, also checked esp6500 and gnomAD, gnomAD is better than ExAC.

oghzzang commented 5 years ago

Thanks a lot.