aaf_exac_all annotation seems to be wrong

31 views
Skip to first unread message

Javier Simón-Sánchez

unread,
Dec 14, 2017, 8:41:50 AM12/14/17
to gemini-variation
Hello,

the allele frequency displayed in this annotation seems to be wrong. For many variants it reads -1 (not present in gnoAD database) but when you actually browse for this variant, it is identified and, in some cases, pretty common. 

See for example rs58941669

Brent Pedersen

unread,
Dec 14, 2017, 11:05:58 AM12/14/17
to Javier Simón-Sánchez, gemini-variation
Hi Javier, that variant appears in gnomad:
http://gnomad.broadinstitute.org/variant/1-3775226-G-A
but not in ExAC. Even the gnomad pages indicates it's not in the exome.

Hope that helps,
-B

Javier Simón-Sánchez

unread,
Dec 14, 2017, 2:15:40 PM12/14/17
to Brent Pedersen, gemini-variation
Yes, i know is not in the exome. the issue here is that gemini annotation says that is not present in gnomad (aaf=-1) while is not true

thanks
--
Javier Simón Sánchez

Javier Simón-Sánchez

unread,
Dec 15, 2017, 5:13:36 AM12/15/17
to gemini-variation
I see that only gnomad exomes are included in gemini database. Any plans to include the complete gnomad database?
Reply all
Reply to author
Forward
0 new messages