PMID- 23849068 OWN - NLM STAT- MEDLINE DCOM- 20140127 LR - 20231106 IS - 1399-0039 (Electronic) IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 82 IP - 2 DP - 2013 Aug TI - Genotype List String: a grammar for describing HLA and KIR genotyping results in a text string. PG - 106-12 LID - 10.1111/tan.12150 [doi] AB - Knowledge of an individual's human leukocyte antigen (HLA) genotype is essential for modern medical genetics, and is crucial for hematopoietic stem cell and solid-organ transplantation. However, the high levels of polymorphism known for the HLA genes make it difficult to generate an HLA genotype that unambiguously identifies the alleles that are present at a given HLA locus in an individual. For the last 20 years, the histocompatibility and immunogenetics community has recorded this HLA genotyping ambiguity using allele codes developed by the National Marrow Donor Program (NMDP). While these allele codes may have been effective for recording an HLA genotyping result when initially developed, their use today results in increased ambiguity in an HLA genotype, and they are no longer suitable in the era of rapid allele discovery and ultra-high allele polymorphism. Here, we present a text string format capable of fully representing HLA genotyping results. This Genotype List (GL) String format is an extension of a proposed standard for reporting killer-cell immunoglobulin-like receptor (KIR) genotype data that can be applied to any genetic data that use a standard nomenclature for identifying variants. The GL String format uses a hierarchical set of operators to describe the relationships between alleles, lists of possible alleles, phased alleles, genotypes, lists of possible genotypes, and multilocus unphased genotypes, without losing typing information or increasing typing ambiguity. When used in concert with appropriate tools to create, exchange, and parse these strings, we anticipate that GL Strings will replace NMDP allele codes for reporting HLA genotypes. CI - (c) 2013 The Authors. Tissue Antigens published by John Wiley & Sons Ltd. FAU - Milius, R P AU - Milius RP AD - Department of Bioinformatics, National Marrow Donor Program, Minneapolis, MN 55413-1753, USA. bmilius@NMDP.ORG FAU - Mack, S J AU - Mack SJ FAU - Hollenbach, J A AU - Hollenbach JA FAU - Pollack, J AU - Pollack J FAU - Heuer, M L AU - Heuer ML FAU - Gragert, L AU - Gragert L FAU - Spellman, S AU - Spellman S FAU - Guethlein, L A AU - Guethlein LA FAU - Trachtenberg, E A AU - Trachtenberg EA FAU - Cooley, S AU - Cooley S FAU - Bochtler, W AU - Bochtler W FAU - Mueller, C R AU - Mueller CR FAU - Robinson, J AU - Robinson J FAU - Marsh, S G E AU - Marsh SG FAU - Maiers, M AU - Maiers M LA - eng GR - P01 CA111412/CA/NCI NIH HHS/United States GR - P01 111412/PHS HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, U.S. Gov't, Non-P.H.S. PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA Antigens) RN - 0 (Receptors, KIR) SB - IM MH - *Algorithms MH - Alleles MH - Gene Frequency MH - Genotype MH - Genotyping Techniques/*standards/statistics & numerical data MH - HLA Antigens/genetics/*immunology MH - *Hematopoietic Stem Cell Transplantation MH - Histocompatibility Testing/*standards/statistics & numerical data MH - Humans MH - *Organ Transplantation MH - Polymorphism, Genetic MH - Receptors, KIR/genetics/*immunology MH - Sequence Analysis, DNA MH - Terminology as Topic MH - Unrelated Donors PMC - PMC3715123 MID - NIHMS484717 OTO - NOTNLM OT - Genotype List String OT - genotype OT - human leukocyte antigen OT - killer-cell immunoglobulin-like receptor EDAT- 2013/07/16 06:00 MHDA- 2014/01/28 06:00 CRDT- 2013/07/16 06:00 PHST- 2013/05/04 00:00 [received] PHST- 2013/05/22 00:00 [accepted] PHST- 2013/07/16 06:00 [entrez] PHST- 2013/07/16 06:00 [pubmed] PHST- 2014/01/28 06:00 [medline] AID - 10.1111/tan.12150 [doi] PST - ppublish SO - Tissue Antigens. 2013 Aug;82(2):106-12. doi: 10.1111/tan.12150.