Genotype List String 1.1: Extending the Genotype List String grammar for describing HLA and Killer‐cell Immunoglobulin‐like Receptor genotypes

Author:

Mack Steven J.1ORCID,Schefzyk Daniel2,Millius Robert P.3,Maiers Martin3ORCID,Hollenbach Jill A.45,Pollack Jane3,Heuer Michael L.3,Gragert Loren6ORCID,Spellman Stephen R.7,Guethlein Lisbeth A.8,Schneider Joel3,Bochtler Werner9,Eberhard Hans‐Peter9ORCID,Robinson James1011ORCID,Marsh Steven G. E.1011ORCID,Schmidt Alexander H.2,Hofmann Jan A.2ORCID,Sauter Jürgen2ORCID

Affiliation:

1. Department of Pediatrics University of California, San Francisco Oakland California USA

2. DKMS Tübingen Germany

3. National Marrow Donor Program Minneapolis Minnesota USA

4. Department of Neurology University of California, San Francisco San Francisco California USA

5. Department of Epidemiology and Biostatistics University of California, San Francisco San Francisco California USA

6. School of Medicine Tulane University New Orleans Louisiana USA

7. Center for International Blood and Marrow Transplant Research National Marrow Donor Program/Be The Match Minneapolis Minnesota USA

8. School of Medicine Stanford University Stanford California USA

9. Zentrales Knochenmarkspender‐Register für Deutschland (ZKRD) Ulm Germany

10. Anthony Nolan Research Institute, Royal Free Campus London UK

11. UCL Cancer Institute, Royal Free Campus London UK

Abstract

The Genotype List (GL) String grammar for reporting HLA and Killer‐cell Immunoglobulin‐like Receptor (KIR) genotypes in a text string was described in 2013. Since this initial description, GL Strings have been used to describe HLA and KIR genotypes for more than 40 million subjects, allowing these data to be recorded, stored and transmitted in an easily parsed, text‐based format. After a decade of working with HLA and KIR data in GL String format, with advances in HLA and KIR genotyping technologies that have fostered the generation of full‐gene sequence data, the need for an extension of the GL String system has become clear. Here, we introduce the new GL String delimiter “?,” which addresses the need to describe ambiguity in assigning a gene sequence to gene paralogs. GL Strings that do not include a “?” delimiter continue to be interpreted as originally described. This extension represents version 1.1 of the GL String grammar.

Funder

National Institute of Allergy and Infectious Diseases

Office of Naval Research

Publisher

Wiley

Subject

Genetics,Immunology,Immunology and Allergy

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