The genotype list string code syntax for exchanging nomenclature‐level genotyping results in clinical and research data management and analysis systems
Article Swipe
Steven J. Mack
,
Jürgen Sauter
,
James Robinson
,
Kazutoyo Osoegawa
,
Lloyd McKenzie
,
Joel Schneider
,
Martin Maiers
,
Robert P. Milius
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/tan.15145
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/tan.15145
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 .
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/tan.15145
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/tan.15145
- OA Status
- hybrid
- Cited By
- 4
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4383186669
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4383186669Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1111/tan.15145Digital Object Identifier
- Title
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The genotype list string code syntax for exchanging
nomenclature‐level genotyping results in clinical and research data management and analysis systemsWork title - Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-07-05Full publication date if available
- Authors
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Steven J. Mack, Jürgen Sauter, James Robinson, Kazutoyo Osoegawa, Lloyd McKenzie, Joel Schneider, Martin Maiers, Robert P. MiliusList of authors in order
- Landing page
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https://doi.org/10.1111/tan.15145Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/tan.15145Direct link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/tan.15145Direct OA link when available
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Genotyping, String (physics), Context (archaeology), Computer science, Gene nomenclature, Programming language, Natural language processing, Computational biology, Biology, Genetics, Genotype, Nomenclature, Gene, Taxonomy (biology), Mathematics, Mathematical physics, Paleontology, BotanyTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2025: 3, 2024: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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