ClinVar, NCBI’s archive of submitted associations between alleles in the human genome and diseases or phenotypes, is now producing XML files that aggregate all submitted disease/phenotype information by variant (or set of variants) for public release via FTP bulk download. The new product, called ClinVarVariationRelease, is currently in beta release and will move to full release in early September 2017.
NCBI usually participates in hackathons as direct organizers and planners. However, NCBI staff recently functioned as facilitators in two hackathons organized by outside groups: one at the Bio-IT World conference, and one at the Silicon Valley Artificial Intelligence (SVAI) incubator.
NCBI will be exhibiting at the ASCO Annual Meeting 2017 from June 2-6.
Exhibit Hall Booth #3046
ASCO attendees can get navigation tips and hands-on help with GTR and ClinVar submissions, take handout materials and meet with Adriana Malheiro, MS* at Booth #3046.
Saturday, June 3 – 9AM–5PM
Sunday, June 4 – 9AM–5PM
Monday, June 5 – 9AM–5PM
*Contact us to schedule a meeting with Adriana Malheiro, MS.
NCBI has three relatively new online resources for information about genetic tests, genetic conditions, and genetic variations:
- The Genetic Testing Registry, or GTR – a registry of genetic tests for heritable and somatic changes in humans
- MedGen – a medical genetics portal that focuses on information about medical conditions with a genetic component
- ClinVar – an archival database that contains reported assertions about the relationship between genetic variations and phenotypes
This blog will provide a very brief overview of the three resources by outlining some of their content features. For a more thorough introduction to the three resources, including the types of information available in each and how to use them, we recommend viewing this approximately hour-long webinar that we conducted in June 2014.