16th IHIW: Extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles
作者： F. F. Gonzalez-Galarza , S. J. Mack , J. Hollenbach , M. Fernandez-Vina , M. Setterholm
DOI: 10.1111/IJI.12030
关键词: Bioinformatics analysis 、 Allele frequency 、 Genetics 、 Allele 、 Immunogenetics 、 Biology 、 Human leukocyte antigen
摘要: Summary Continuing a project presented at the 15th International HLA and Immunogenetics Workshop (IHIWS) on rarity of alleles, we sought to expand number data sources bioinformatics tools available in Allele Frequencies Net Database website (AFND, www.allelefrequencies.net). In this 16th IHIWS Rare Alleles project, alleles described latest IMGT/HLA (release 3.8.0) were queried against different including from registries (stem cell) 74 laboratories around world. We demonstrated that approximately 40% officially named have been reported only once across all sources. To facilitate large-scale analysis rare produced an online tool called Detector simplifies detection are considered be ‘very rare’, ‘rare’ or ‘frequent’. Tools associated can accessed via www.allelefrequencies.net website.
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