Abstract
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.
- BAM
- Binary Alignment/Map
- CSB
- Consensus Sequence Block
- dbGAP
- Genotype and Phenotype Database
- EMBL
- European Molecular Biology Laboratory
- ENA
- European Nucleotide Archive
- GL
- Genotype List
- GRC
- Genome Reference Consortium
- GTR
- Genetic Testing Registry
- HLA
- Human Leukocyte Antigen
- HIEDFS
- HLA Information Exchange Data Format Standards
- HIPAA
- Health Insurance Portability and Accountability Act
- IEC
- International Electrotechnical Commission
- IDAWG
- Immunogenomic Data Analysis Working Group
- IHIW
- International HLA and Immunogenetics Workshop
- IMGT
- ImMunoGeneTics
- INGSDC
- Immunogenomic Next Generation Sequencing Data Consortium
- INSDC
- International Nucleotide Sequence Database Collaboration
- IPD
- Immuno Polymorphism Database
- ISO
- International Organization for Standardization
- IUBMB
- International Union of Biochemistry and Molecular Biology
- IUPAC
- International Union of Pure and Applied Chemistry
- KIR
- Killer-cell Immunoglobulin-like Receptor
- MIBBI
- Minimum Information for Biological and Biomedical Investigations
- MIRING
- Minimum Information for Reporting Immunogenomic NGS Genotypes
- NCBI
- National Center for Biotechnology Information
- NGS
- Next Generation Sequencing
- OID
- Organization Identifier
- PIPEDA
- Personal Information Protection and Electronics Documents Act
- SBT
- Sanger sequencing Based Typing
- SFF
- Standard Flowgram Format
- SRA
- Sequence Read Archive
- SSOP
- Sequence-Specific Oligonucleotide Probe
- SSP
- Sequence-Specific Priming
- URI
- Uniform Resource Identifier
- VCF
- Variant Call Format