Closed Massimo78 closed 8 years ago
Unfortunately, we don't have support for more data on the browser. Can you email exomeconsortium@gmail.com with the 2 variants you are interested in and we can try to help there?
Dear Konrad, thank you so much for your reply.
We would like to check if a candidate pathogenic variant we found in our study (which is a ultra rare variant in ExAC, allele count =7) is or not coupled to another variant on the same gene in any of the seven samples matched in ExAC browser The two variants are both in TECPR2 gene : 14-102906902-C-T T903M and 14-102901204-C-G L684V (rs45467297)
If it' s not a problem for you we'd like also to know if the variant 16- 89597127-G-A G300R in SPG7 gene ( found in two samples in ExAC) is present togheter with the variant 14-102906902-C-T T903M in any of the two samples.
Thank you in advance
Massimo Acquaviva & Angela Covone
UOC Medical Genetics Gaslini Institute Genova Italy
2016-03-10 23:48 GMT+01:00 Konrad Karczewski notifications@github.com:
Unfortunately, we don't have support for more data on the browser. Can you email exomeconsortium@gmail.com with the 2 variants you are interested in and we can try to help there?
— Reply to this email directly or view it on GitHub https://github.com/konradjk/exac_browser/issues/231#issuecomment-195085190 .
Dear ExAC supporting team,
I would like to check if a candidate pathogenic variant we found in our study (which is a ultra rare variant in ExAC, allele count =7) is or not coupled to another variant on the same gene in any of the seven samples matched in ExAC browser. I tried using the Read Data Visualization tool but I got some problems (no more than four samples can be visualized when I change genomic location) Any help will be appreciated Thank you in advance
Massimo Acquaviva
Bioinformatician UOC Medical Genetics Giannina Gaslini Institute Genova, Italy