We’re excited to be trying a new conference this year: the African Society of Human Genetics (AfSHG) conference in collaboration with H3Africa, in Kigali Rwanda, 19th-21st September. The conference is a fantastic opportunity for African scientists to showcase their work, build collaborations and learn more about their field of research. For us, it’s great to see what research is going on outside of our usual sphere, as well as to promote our free database and training to researchers who could benefit from it.

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This guest blog is a joint contribution by Laura Harris (GWAS Catalog) and Astrid Gall (Ensembl Outreach). You can contact our colleagues of the GWAS Catalog at gwas-info[at]ebi.ac.uk.

This year marks a special anniversary for the GWAS Catalog, as we have reached ten years since our launch in 2008. The GWAS Catalog is a widely used publicly available resource of all published human genome wide association studies (GWAS) and association results. Each GWAS study contains a wealth of information which is effectively inaccessible to researchers and clinicians without them spending a lot of time undertaking regular systematic reviews of the literature. This is where we can help you!

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For the third year in a row, we’re lucky to have student developers working with us as part of Google Summer of Code. We’ve got three GSOC-ers this year, working on some really exciting projects: Zeyu Tony Yang, working on primary genome analysis, Nabil Ibtehaz, working on transcript-level orthology and Somesh Chaturvedi, working on retrieving reference sequences with APIs.

GSOC is a project set up by Google that places students in open source projects to take on a short independent coding project, and pays them for it. We have to pass rigorous selection criteria to be allowed to offer projects on GSOC, and the students have to be selected by both Google and us to take part. It means the GSOC-ers are the Top Gun of student developers. We think this is a really great opportunity, both for open source projects like us, who get a fresh pair of eyes to take a look at something that we’ve maybe put on the back-burner, and for the students, who get experience working on a real-world coding project during their university summer break.

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Ensembl and NCBI have been working to align the GENCODE and RefSeq reference transcripts. As part of that effort, we are also developing plans to define a primary transcript for every gene as well as a minimal set of clinically relevant transcripts. To guide that effort, we have developed a small survey to get input on how to define the primary transcript and whether this would be important to your work.
The survey should only take 10 minutes or less and you will have the opportunity to sign up for follow-up info about this project if you are interested.