The meeting will start with an informal event on Thursday, November 3 in the evening. We will work from 8 AM on Friday, November 4 and finish on Saturday, November 5 at 4 PM, stopping when appropriate to eat, drink, and socialize.
Three DaSH events have been held, in Bethesda, La Jolla and Minneapolis1,2,3. Gottfried Fischer is hosting the fourth event in Austria.
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
- 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.
- 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.
Friday, November 4, 2016 - Saturday, November 5, 2016
University of Vienna, AustriaUniversitatsrig 1Wien 1010Austria
Sponsorship options for this meeting are available, please contact Martin Maiers firstname.lastname@example.org for additional information.
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