SEPTEMBER 25, 2016
ST. LOUIS, MO
As you know, the 17th International HLA and Immunogenetics Workshop (IHIW) will be held in the fall of 2017, with a specific focus on the application of next-generation sequencing (NGS) for HLA and KIR genotyping.
A key goal of the workshop is to collect NGS genotyping information in a standardized format that includes GL String, consensus and locus data. Ultimately, the data should meet the Minimum Information for Reporting Immunogenomic NGS Genotyping (MIRING) and Histoimmunogenetics Markup Language (HML) 1.0 data reporting standards.
Ultimately, the integration of the NGS genotyping software platforms currently in use by Workshop participants (Omixon HLA Twin and Target HLA, GenDx NGSengine, ThermoFisher/One Lambda TypeStream, Illumina TruSight HLA, Immucor Mia Fora NGS and Scisco Genetics GeMS), and other software analysis available, is crucial to this process.
We are delighted to announce that we had participation from each of the software platforms available, as well as representatives of Anthony Nolan Research Institute and PacBio Systems.
During this Summit, we had presentations from Kazutoyo Osoegawa PhD, Stanford HIDPL, who described the data entry experience from various participants into the IHIWS database, demonstrating the need for standardized reporting.
We also heard from Steve Mack PhD, CHORI, whose presentation provided an overview of the workshop and specifically the database, highlighting the need to have uniform data content and why all NGS data and meta-data should be compatible and comparable, allowing all formats to be interpreted equally during analysis. Steve described the concept of Minimum Information for Reporting Immunogenomic NGS Genotyping (MIRING) and why it is essential to analysis to be performed on the data collected.
Last, we heard from Bob Milius PhD, Bioinformatics Research NMDP®/Be The Match®. Bob’s presentation focused on MIRING & HML reporting as well as XML schema. In a second presentation, Bob described Genome Sequence Coordinates, advantages and disadvantages of One-Based Vs. Zero-Based systems and matching SequenceBlock to the reference sequence.
There was a round table discussion and a list of conclusions was drafted, which will be posted in this website at a later time.
The Presentations
Sequence Coordinates 0- vs 1- base
HML/XML Presentation by KazutoyoOsoegawa, Ph.D.
Conclusions
Download the Report (PDF)
Reference Documentation
READ ME (TXT)
Alleles (TXT)
Categories (TXT)