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The genotype list string code syntax for exchanging nomenclature‐level genotyping results in clinical and research data management and analysis systems.

Authors :
Mack, Steven J.
Sauter, Jürgen
Robinson, James
Osoegawa, Kazutoyo
McKenzie, Lloyd
Schneider, Joel
Maiers, Martin
Milius, Robert P.
Source :
HLA: Immune Response Genetics; Oct2023, Vol. 102 Issue 4, p501-507, 7p
Publication Year :
2023

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20592302
Volume :
102
Issue :
4
Database :
Complementary Index
Journal :
HLA: Immune Response Genetics
Publication Type :
Academic Journal
Accession number :
171370658
Full Text :
https://doi.org/10.1111/tan.15145