Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

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

View ORCID ProfileSteven J. Mack, View ORCID ProfileRobert P. Milius, View ORCID ProfileBenjamin D. Gifford, View ORCID ProfileJürgen Sauter, View ORCID ProfileJan Hofmann, View ORCID ProfileKazutoyo Osoegawa, View ORCID ProfileJames Robinson, View ORCID ProfileMathijs Groeneweg, View ORCID ProfileGregory S. Turenchalk, View ORCID ProfileAlex Adai, View ORCID ProfileCherie Holcomb, View ORCID ProfileErik H. Rozemuller, View ORCID ProfileMaarten T. Penning, View ORCID ProfileMichael L. Heuer, View ORCID ProfileChunlin Wang, View ORCID ProfileMarc L. Salit, View ORCID ProfileAlexander H. Schmidt, View ORCID ProfileCarlheinz Müller, View ORCID ProfileTim Hague, View ORCID ProfileGottfried Fischer, View ORCID ProfileMarcelo Fernandez-Viňa, View ORCID ProfileJill A Hollenbach, View ORCID ProfilePaul J. Norman, View ORCID ProfileMartin Maiers
doi: https://doi.org/10.1101/015230
Steven J. Mack
1Children’s Hospital Oakland Research Institute, Oakland, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Steven J. Mack
Robert P. Milius
2National Marrow Donor Program, Minneapolis, MN, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Robert P. Milius
Benjamin D. Gifford
3One Lambda, Thermo Fisher Scientific, Brown Deer, WI, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Benjamin D. Gifford
Jürgen Sauter
4DKMS German Bone Marrow Donor Center, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jürgen Sauter
Jan Hofmann
4DKMS German Bone Marrow Donor Center, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jan Hofmann
Kazutoyo Osoegawa
5Department of Pathology, Stanford University, Stanford, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Kazutoyo Osoegawa
James Robinson
6Anthony Nolan Research Institute, Royal Free Hospital, London, UK
7University College London Cancer Institute, University College London, London, UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for James Robinson
Mathijs Groeneweg
8Maastricht University Medical Centre, Maastricht, The Netherlands
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Mathijs Groeneweg
Gregory S. Turenchalk
9Bioinformatics, Roche Sequencing, Pleasanton, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Gregory S. Turenchalk
Alex Adai
9Bioinformatics, Roche Sequencing, Pleasanton, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Alex Adai
Cherie Holcomb
10Roche Molecular Systems, Pleasanton, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Cherie Holcomb
Erik H. Rozemuller
11GenDX, Utrecht, Netherlands
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Erik H. Rozemuller
Maarten T. Penning
11GenDX, Utrecht, Netherlands
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Maarten T. Penning
Michael L. Heuer
2National Marrow Donor Program, Minneapolis, MN, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Michael L. Heuer
Chunlin Wang
12Stanford Genome Technology Center, Stanford University, Stanford, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Chunlin Wang
Marc L. Salit
13National Institute of Standards and Technology, Stanford, CA, USA
14Department of Bioengineering, Stanford University, Stanford, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Marc L. Salit
Alexander H. Schmidt
4DKMS German Bone Marrow Donor Center, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Alexander H. Schmidt
Carlheinz Müller
15Zentrales Knochenmarkspender-Register Deutschland, Ulm, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Carlheinz Müller
Tim Hague
16Omixon, Budapest, Hungary
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Tim Hague
Gottfried Fischer
17Medical University of Vienna, Vienna, Austria
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Gottfried Fischer
Marcelo Fernandez-Viňa
5Department of Pathology, Stanford University, Stanford, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Marcelo Fernandez-Viňa
Jill A Hollenbach
18Department of Neurology, University of California, San Francisco, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Jill A Hollenbach
Paul J. Norman
19Department of Structural Biology, Stanford University, Stanford, CA, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Paul J. Norman
Martin Maiers
2National Marrow Donor Program, Minneapolis, MN, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Martin Maiers
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Preview PDF
Loading

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
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
Back to top
PreviousNext
Posted February 16, 2015.
Download PDF
Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing
Steven J. Mack, Robert P. Milius, Benjamin D. Gifford, Jürgen Sauter, Jan Hofmann, Kazutoyo Osoegawa, James Robinson, Mathijs 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, Carlheinz Müller, Tim Hague, Gottfried Fischer, Marcelo Fernandez-Viňa, Jill A Hollenbach, Paul J. Norman, Martin Maiers
bioRxiv 015230; doi: https://doi.org/10.1101/015230
Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Citation Tools
Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing
Steven J. Mack, Robert P. Milius, Benjamin D. Gifford, Jürgen Sauter, Jan Hofmann, Kazutoyo Osoegawa, James Robinson, Mathijs 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, Carlheinz Müller, Tim Hague, Gottfried Fischer, Marcelo Fernandez-Viňa, Jill A Hollenbach, Paul J. Norman, Martin Maiers
bioRxiv 015230; doi: https://doi.org/10.1101/015230

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Subject Areas
All Articles
  • Animal Behavior and Cognition (2428)
  • Biochemistry (4786)
  • Bioengineering (3329)
  • Bioinformatics (14658)
  • Biophysics (6631)
  • Cancer Biology (5163)
  • Cell Biology (7418)
  • Clinical Trials (138)
  • Developmental Biology (4357)
  • Ecology (6869)
  • Epidemiology (2057)
  • Evolutionary Biology (9908)
  • Genetics (7342)
  • Genomics (9512)
  • Immunology (4545)
  • Microbiology (12661)
  • Molecular Biology (4938)
  • Neuroscience (28287)
  • Paleontology (199)
  • Pathology (804)
  • Pharmacology and Toxicology (1388)
  • Physiology (2020)
  • Plant Biology (4487)
  • Scientific Communication and Education (977)
  • Synthetic Biology (1297)
  • Systems Biology (3909)
  • Zoology (725)