DASH2
Our goal is to produce a service that will interpret novel alleles automatically and utilize HML 1.0 to manage novel variations.
HLA is one of the most medically relevant gene systems in humans. While rare variants are important determinants of disease, common polymorphisms - especially prevalent in HLA - are more important for histocompatibility and donor-recipient matching. Can we build data standards and pipelines that accommodate both?
Adapt, enhance, modify, (hack) our pipeline to process IHIWS samples into (i) consensus sequences and HLA nomenclature (ii) HML 1.0 (iii) Enumerated Gene Features (http://biorxiv.org/content/early/2015/02/15/015222) (iv) Variant, variant effects, and functional/clinical annotation Validate the HML, possibly using either or both of these options. (i) Check/hack existing validation code produced by NMDP. (ii) Consume HML from the above processing, and check that everyone ends up with the same result.
Implementers will spend two days working on new ways to report and exchange HLA and KIR NGS data. We will concentrate on sorting out how to deal with novel polymorphisms. As the name 'hackathon' implies, the meeting is geared to 'implementers,' and less so to 'talkers' and 'directors.'
| Time | Description |
|---|---|
| 6:30pm |
Meet in lobby of Marriott La Jolla, 4240 La Jolla Village Drive Congregate in the hotel before walking to dinner |
| 7:00pm |
Dinner at San Diego Seasons 52, 4505 La Jolla Village Drive C1 Dinner and dialogue about topics for discussion and hacking during the following days. Sponsored by Roche. |
| Evening | Return to hotel |
| Time | Description |
|---|---|
| 8:00am |
Breakfast in Marriott La Jolla, 4240 La Jolla Village Drive A chance for introductions for those unable to attend the Wednesday evening dinner. There will be two sittings, and we will let you know which time you should attend. |
| 9:30am |
Meet in lobby of Marriott La Jolla, 4240 La Jolla Village Drive To shuttle to the meeting venue, Illumina |
| 10:00am | Receive name badges and Wi-Fi access at Illumina, 5200 Illumina Way, San Diego |
| 10:15am |
Break into working groups Separate tables for similar coding projects, or discussions |
| 1:00pm |
Lunch Sponsored by GenDx |
| 1:45pm | Return to working groups |
| 5:00pm |
Cocktail Hour on Patio Sponsored by Illumina |
| 5:30pm |
Dinner Sponsored by Illumina |
| 7:30pm | Shuttle back to Marriott hotel |
| Evening | Personal time to spend on coding or discussions |
| Time | Description |
|---|---|
| 8:00am |
Meet in lobby of Marriott La Jolla, 4240 La Jolla Village Drive To shuttle to the meeting venue, Illumina |
| 8:30am |
Breakfast at Illumina, 5200 Illumina Way, San Diego Presentation on data handling by the Senior Manager of Scientific Computing at Illumina |
| 9:00am |
Break into working groups Separate tables for similar coding projects, or discussions |
| 12:00pm |
Lunch sponsored by Pacific Biosciences |
| 12:45pm |
Return to working groups Wrap up work and prepare a summary for each working group to share with everyone |
| 5:00 pm |
Report back from groups Each group reports on what they did during the hackathon. |
| 6:00pm |
Close of meeting Shuttle back to Marriott |
| 6:30pm |
Meet in lobby of Marriott La Jolla, 4240 La Jolla Village Drive Before walking to dinner |
| 7:00pm |
Dinner at Roy's Restaurant La Jolla, 8670 Genesee Avenue Dinner and discussion about what next for DaSH for NGS |
| Evening |
Return to hotel Possibly visiting Draft Republic on the way back to the hotel, to experience a wide range of beers (self-financed) |