DASH4

History:

Three DaSH events have been held, in Bethesda, La Jolla and Minneapolis.
Gottfried Fischer is hosting the fourth event in Austria.

What:

3 primary focus areas

1. Feature Service Ecosystem: building up the tools for getting data in/out of this service in preparation for the 17th IHIW <img src="https://cloud.githubusercontent.com/assets/8570385/19779508/07e3a882-9c47-11e6-9e7c-b90f0050a2fd.png" align="right" >

• REST storage and unique ID generation for locus/term/rank/sequence
• Annotation Service: convert consensus to locus/term/rank/sequence
• GFE Service: use feature service to generate 17th IHIW names
• GL Service: strict relative to particular GFE Service instance (GFE-GL)
• Bulk loading of full-gene NGS data: NMDP 80,000 individuals, other
• Public Curation: associate a “user” with a contribution (HML/cons.)
• Private Curation: segregate PHI/PII from genotype data
• Support beyond classical HLA to non-classical HLA and KIR genomics
• Upload to (and download from) SRA

2. HL7 FHIR® (Fast Healthcare Interoperability Resources). We will be exploring the use of HL7 FHIR® to exchange HLA typing dating with the EMRs and other healthcare systems. To prepare for this, the following will be provided ahead of the meeting

• FHIR® resource/profile documentation and introductory material
• Examples of how NGS based genotyping data may be represented in FHIR®
• Link to a FHIR® compliant server which we will use to exchange data
• Webinar presenting an introduction to FHIR® and exchanging HLA genotyping data. For some introductory information, see the Proposed Standard for Trial Use 3 (STU3) at http://hl7.org/fhir/2016Sep and the wiki documentation at http://wiki.hl7.org/index.php?title=FHIR

3. Global Haplotype Analysis. Curation/Creation/Population services. Quality metrics. Global HF analysis. AFND/Publication. Licensing and data access.

Other topics:

• HML adoption
  • Dissemination of the tools to the typing community.
  • A publically available pipeline for the analysis of NGS data, which can be used as reference for the validation of new alleles or other typing software.
  • A tool that allows the generation of HML from current NGS SW vendor reports.
  • Long read data: PacBio, Oxford Nanopore.
  • Revisit KIR presence/absence and CNV reporting.
  • Long term support of services & interaction with societies: EFI/APHIA/ASHI.
• Non-coding variation such as the HLA-C miRNA
  • Mining and reporting known functional variants from outside codons.
  • Automated annotation of non-coding features.

When:

The meeting will start with an informal event on Thursday night, November 3rd. We will work from 8:00 am on Friday 4th, finishing at 4:00 pm on Saturday 5th November 2016, stopping when appropriate to eat and drink and socialize.

Where:

On the campus of the University of Vienna, Austria.

Further details:

Please contact Michael Wright, mwright@nmdp.org

As the name 'hackathon' implies, the meeting is geared to 'implementers,' and less so to 'talkers' and 'directors.'