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konradjk / exac_browser

Browser for ExAC consortium data
http://exac.broadinstitute.org
MIT License
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Read Data Visualization Issue #231

Closed Massimo78 closed 8 years ago

Massimo78 commented 8 years ago

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

konradjk commented 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?

Massimo78 commented 8 years ago

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 .