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第十六届 IHIW:扩展资源和生物信息学分析的数量,以调查 HLA 罕见等位基因。

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

机构信息

Institute of Integrative Biology, University of Liverpool, Liverpool, UK.

出版信息

Int J Immunogenet. 2013 Feb;40(1):60-5. doi: 10.1111/iji.12030. Epub 2012 Dec 1.

Abstract

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.

摘要

延续在第 15 届国际 HLA 和免疫遗传学研讨会 (IHIWS) 上提出的 HLA 等位基因罕见性项目,我们寻求扩展可用的数据源和生物信息学工具数量,这些工具均在等位基因频率网络数据库网站 (AFND,www.allelefrequencies.net) 上提供。在这个第 16 届 IHIWS 稀有等位基因项目中,我们针对不同来源(包括来自干细胞登记处的数据和来自世界各地 74 个不同实验室的数据)查询了最新的 IMGT/HLA 数据库 (版本 3.8.0) 中描述的 HLA 等位基因。我们证明,在所有不同来源中,大约有 40%的等位基因在 IMGT/HLA 数据库中被正式命名,但只被报告过一次。为了便于大规模分析稀有等位基因,我们开发了一个名为稀有等位基因检测器的在线工具,该工具简化了对被认为是“非常罕见”、“稀有”或“常见”的等位基因的检测。可以通过 www.allelefrequencies.net 网站访问工具和相关数据。

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