TY - JOUR T1 - Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing JF - bioRxiv DO - 10.1101/015230 SP - 015230 AU - Steven J. Mack AU - Robert P. Milius AU - Benjamin D. Gifford AU - Jürgen Sauter AU - Jan Hofmann AU - Kazutoyo Osoegawa AU - James Robinson AU - Mathijs Groeneweg AU - Gregory S. Turenchalk AU - Alex Adai AU - Cherie Holcomb AU - Erik H. Rozemuller AU - Maarten T. Penning AU - Michael L. Heuer AU - Chunlin Wang AU - Marc L. Salit AU - Alexander H. Schmidt AU - Carlheinz Müller AU - Tim Hague AU - Gottfried Fischer AU - Marcelo Fernandez-Viňa AU - Jill A Hollenbach AU - Paul J. Norman AU - Martin Maiers Y1 - 2015/01/01 UR - http://biorxiv.org/content/early/2015/02/16/015230.abstract N2 - 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.BAMBinary Alignment/MapCSBConsensus Sequence BlockdbGAPGenotype and Phenotype DatabaseEMBLEuropean Molecular Biology LaboratoryENAEuropean Nucleotide ArchiveGLGenotype ListGRCGenome Reference ConsortiumGTRGenetic Testing RegistryHLAHuman Leukocyte AntigenHIEDFSHLA Information Exchange Data Format StandardsHIPAAHealth Insurance Portability and Accountability ActIECInternational Electrotechnical CommissionIDAWGImmunogenomic Data Analysis Working GroupIHIWInternational HLA and Immunogenetics WorkshopIMGTImMunoGeneTicsINGSDCImmunogenomic Next Generation Sequencing Data ConsortiumINSDCInternational Nucleotide Sequence Database CollaborationIPDImmuno Polymorphism DatabaseISOInternational Organization for StandardizationIUBMBInternational Union of Biochemistry and Molecular BiologyIUPACInternational Union of Pure and Applied ChemistryKIRKiller-cell Immunoglobulin-like ReceptorMIBBIMinimum Information for Biological and Biomedical InvestigationsMIRINGMinimum Information for Reporting Immunogenomic NGS GenotypesNCBINational Center for Biotechnology InformationNGSNext Generation SequencingOIDOrganization IdentifierPIPEDAPersonal Information Protection and Electronics Documents ActSBTSanger sequencing Based TypingSFFStandard Flowgram FormatSRASequence Read ArchiveSSOPSequence-Specific Oligonucleotide ProbeSSPSequence-Specific PrimingURIUniform Resource IdentifierVCFVariant Call Format ER -