16(th) IHIW: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles.

F F Gonzalez-Galarza, S J Mack, J Hollenbach, M Fernandez-Vina, M Setterholm, J Kempenich, S G E Marsh, A R Jones, D Middleton, HLA Rare Allele Consortium

Institute of Integrative Biology, University of Liverpool, Liverpool, UK. F.Galarza@liv.ac.uk

International journal of immunogenetics 2013 Feb

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Continuing a project presented at the 15th International HLA and Immunogenetics Workshop (IHIWS) on the rarity of HLA alleles, we sought to expand the number of data sources and bioinformatics tools available in the Allele Frequencies Net Database website (AFND, www.allelefrequencies.net). In this 16th IHIWS Rare Alleles project, HLA alleles described in the latest IMGT/HLA Database (release 3.8.0) were queried against different sources including data from registries (stem cell) and from 74 different laboratories around the world. We demonstrated that approximately 40% of the alleles officially named in the IMGT/HLA Database have been reported only once across all different sources. To facilitate the large-scale analysis of rare alleles, we have produced an online tool called the Rare Allele Detector that simplifies the detection of alleles that are considered to be 'very rare', 'rare' or 'frequent'. Tools and associated data can be accessed via the www.allelefrequencies.net website. © 2012 Blackwell Publishing Ltd.

Citation

F F Gonzalez-Galarza, S J Mack, J Hollenbach, M Fernandez-Vina, M Setterholm, J Kempenich, S G E Marsh, A R Jones, D Middleton, HLA Rare Allele Consortium. 16(th) IHIW: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles. International journal of immunogenetics. 2013 Feb;40(1):60-5