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Hum Immunol. 2015 Dec;76(12):954-62. doi: 10.1016/j.humimm.2015.09.011. Epub 2015 Sep 25.

Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing.

Author information

1
Children's Hospital Oakland Research Institute, Oakland, CA, USA. Electronic address: SJMACK@CHORI.ORG.
2
National Marrow Donor Program, Minneapolis, MN, USA.
3
One Lambda, Thermo Fisher Scientific, Brown Deer, WI, USA.
4
DKMS German Bone Marrow Donor Center, Tübingen, Germany.
5
Department of Pathology, Stanford University, Stanford, CA, USA.
6
Anthony Nolan Research Institute, Royal Free Hospital, London, UK; University College London Cancer Institute, University College London, London, UK.
7
Maastricht University Medical Centre, Maastricht, The Netherlands.
8
Bioinformatics, Roche Sequencing, Pleasanton, CA, USA.
9
Roche Molecular Systems, Pleasanton, CA, USA.
10
GenDX, Utrecht, The Netherlands.
11
Stanford Genome Technology Center, Stanford University, Stanford, CA, USA.
12
National Institute of Standards and Technology, Stanford, CA, USA; Department of Bioengineering, Stanford University, Stanford, CA, USA.
13
Department of Structural Biology, Stanford University, Stanford, CA, USA.
14
Zentrales Knochenmarkspender-Register Deutschland, Ulm, Germany.
15
Omixon, Budapest, Hungary.
16
Medical University of Vienna, Vienna, Austria.
17
Department of Neurology, University of California, San Francisco, CA, USA.

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.

KEYWORDS:

Data standards; Genotyping; HLA; KIR; MIRING; NGS

PMID:
26407912
PMCID:
PMC4674382
DOI:
10.1016/j.humimm.2015.09.011
[Indexed for MEDLINE]
Free PMC Article

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