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Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing

By Steven J. Mack, Robert P Milius, Benjamin D Gifford, Jürgen Sauter, Jan Hofmann, Kazutoyo Osoegawa, James Robinson, Mathjis Groeneweg, Gregory S Turenchalk, Alex Adai, Cherie Holcomb, Erik H Rozemuller, Maarten T Penning, Michael L Heuer, Chunlin Wang, Marc L. Salit, Alexander H Schmidt, Peter R Parham, Carlheinz Müller, Tim Hague, Gottfried Fischer, Marcelo Fernandez-Viňa, Jill A Hollenbach, Paul J Norman, Martin Maiers

Posted 16 Feb 2015
bioRxiv DOI: 10.1101/015230 (published DOI: 10.1016/j.humimm.2015.09.011)

The development of next-generation sequencing (NGS) technologies for HLA and KIR genotyping is rapidly advancing knowledge of genetic variation of these highly polymorphic loci. NGS genotyping is poised to replace older methods for clinical use, but standard methods for reporting and exchanging these new, high quality genotype data are needed. The Immunogenomic NGS Consortium, a broad collaboration of histocompatibility and immunogenetics clinicians, researchers, instrument manufacturers and software developers, has developed the Minimum Information for Reporting Immunogenomic NGS Genotyping (MIRING) reporting guidelines. MIRING is a checklist that specifies the content of NGS genotyping results as well as a set of messaging guidelines for reporting the results. A MIRING message includes five categories of structured information – message annotation, reference context, full genotype, consensus sequence and novel polymorphism – and references to three categories of accessory information – NGS platform documentation, read processing documentation and primary data. These eight categories of information ensure the long-term portability and broad application of this NGS data for all current histocompatibility and immunogenetics use cases. In addition, MIRING can be extended to allow the reporting of genotype data generated using pre-NGS technologies. Because genotyping results reported using MIRING are easily updated in accordance with reference and nomenclature databases, MIRING represents a bold departure from previous methods of reporting HLA and KIR genotyping results, which have provided static and less-portable data. More information about MIRING can be found online at miring.immunogenomics.org.

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