The Centre for Applied Genomics (TCAG) and the Ontario Genomics Institute (OGI) hosted a 1 hour web conference/webinar about the Database of Genomic Variants (DGV) - a curated database that catalogues structural variation in the human genome, including copy number variations, segmental duplications, inversions, insertions, deletions, etc.
The presentation was led by Dr. Richard Wintle, Assistant Director at TCAG, The Hospital for Sick Children.
The webinar included:
- Background and introduction to CNV data
- A brief tour of the DGV - features, browsing, searching
- Use case examples
- Future directions
Click here to download the slide presentation.
Q&A
When are you updating to build 37?
We are intending to provide Build 37 mapping within the next few months. Right now, we are deploying an update including data from several new studies, and we will turn our attention to the Build 37 work once that update is deployed.
How easy/difficult is it to incorporate GBrowse into your interface? What other web technologies does DGV use?
GBrowse itself forms the interface. In terms of implementation, I do not believe it was that difficult for our bioinformatics team to put in place. DGV runs on GMOD/GBrowse but does not use any other unusual web technologies (such as Java or Flash). Part of the reason for this is to keep the implementation as simple as possible.
When incorporating the gold standard track, are you planning to provide combined frequency information by population if applicable?
Ideally, we would like to do this. Practically speaking it may be difficult, as the "gold standard" CNVs will be CNV regions as defined by overlapping CNV calls (which are often from different studies and different populations).
