RT Journal Article
SR Electronic
T1 Minimum Information for Reporting Next Generation Sequence Genotyping (MIRING): Guidelines for Reporting HLA and KIR Genotyping via Next Generation Sequencing
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 015230
DO 10.1101/015230
A1 Steven J. Mack
A1 Robert P Milius
A1 Benjamin D Gifford
A1 Jürgen Sauter
A1 Jan Hofmann
A1 Kazutoyo Osoegawa
A1 James Robinson
A1 Mathjis Groeneweg
A1 Gregory S Turenchalk
A1 Alex Adai
A1 Cherie Holcomb
A1 Erik H Rozemuller
A1 Maarten T Penning
A1 Michael L Heuer
A1 Chunlin Wang
A1 Marc L Salit
A1 Alexander H Schmidt
A1 Peter R Parham
A1 Carlheinz Müller
A1 Tim Hague
A1 Gottfried Fischer
A1 Marcelo Fernandez-Viňa
A1 Jill A Hollenbach
A1 Paul J Norman
A1 Martin Maiers
YR 2015
UL http://biorxiv.org/content/early/2015/09/24/015230.abstract
AB 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.