Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation... - PubMed - NCBI
Hum Immunol. 2015 Sep 25. pii: S0198-8859(15)00448-6. doi: 10.1016/j.humimm.2015.09.011. [Epub ahead of print]
Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing.
Mack SJ1,
Milius RP2,
Gifford BD3,
Sauter J4,
Hofmann J4,
Osoegawa K5,
Robinson J6,
Groeneweg M7,
Turenchalk GS8,
Adai A8,
Holcomb C9,
Rozemuller EH10,
Penning MT10,
Heuer ML2,
Wang C11,
Salit ML12,
Schmidt AH4,
Parham PR13,
Müller C14,
Hague T15,
Fischer G16,
Fernandez-Viňa M5,
Hollenbach JA17,
Norman PJ13,
Maiers M2.
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. Copyright © 2015. Published by Elsevier Inc.
KEYWORDS:
Data standards; Genotyping; HLA; KIR; MIRING; NGS
- PMID:
- 26407912
- [PubMed - as supplied by publisher]
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