Affiliation:
1. Department of Pediatrics University of California, San Francisco Oakland California USA
2. DKMS Tübingen Germany
3. Anthony Nolan Research Institute London UK
4. UCL Cancer Institute London UK
5. Histocompatibility & Immunogenetics Laboratory Stanford Blood Center, Stanford Health Care Palo Alto California USA
6. Dogwood Health Consulting British Columbia Canada
7. National Marrow Donor Program Minneapolis Minnesota USA
Abstract
The nomenclatures used to describe HLA and killer‐cell immunoglobulin‐like receptor (KIR) alleles distinguish unique nucleotide and peptide sequences, and patterns of expression, but are insufficient for describing genotyping results, as description of ambiguities and relations across loci require terminology beyond allele names. The genotype list (GL) String grammar describes genotyping results for genetic systems with defined nomenclatures, like HLA and KIR, documenting what is known and unknown about a given genotyping result. However, the accuracy of a GL String is dependent on the reference database version under which it was generated. Here, we describe the GL string code (GLSC) system, which associates each GL String with meta‐data describing the specific reference context in which the GL String was created, and in which it should be interpreted. GLSC is a defined syntax for exchanging GL Strings in the context of a specific gene‐family namespace, allele‐name code‐system, and pertinent reference database version. GLSC allows HLA and KIR genotyping data to be transmitted, parsed and interpreted in the appropriate context, in an unambiguous manner, on modern data‐systems, including Health Level 7 Fast Healthcare Interoperability Resource systems. Technical specification for GLSC can be found at https://glstring.org.
Funder
National Institute of Allergy and Infectious Diseases
Office of Naval Research
Office of the National Coordinator for Health Information Technology
Subject
Genetics,Immunology,Immunology and Allergy
Reference30 articles.
1. Report of the international committee on genetic symbols and nomenclature;Tanaka Y;Int Union Biol Sci B,1957
2. Edinburgh conference;Human gene mapping 5;Birth Defects Orig Artic Ser,1980
3. Nomenclature for factors of the HL–a system;Bull World Health Organ,1968
4. Genetic and Functional Relationships between MHC and NK Receptor Genes
5. Nature of polymorphism in HLA-A, -B, and -C molecules.