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Abstract：
IMGT®, the international ImMunoGeneTics information system®, created in 1989, by Marie-Paule Lefranc (Université de Montpellier and CNRS), marked the advent of immunoinformatics, a new science which emerged at the interface between immunogenetics and bioinformatics for the study of the adaptive immune responses. IMGT® is based on a standardized nomenclature of the immunoglobulin (IG) and T cell receptor (TR) genes and alleles from fish to humans and on the IMGT unique numbering for the variable (V) and constant (C) domains of the immunoglobulin superfamily (IgSF) of vertebrates and invertebrates, and for the groove (G) domain of the major histocompatibility (MH) and MH superfamily (MhSF) proteins. IMGT® comprises 7 databases, 17 tools and more than 25,000 pages of web resources for sequences, genes and structures, based on the IMGT Scientific chart rules generated from the IMGT-ONTOLOGY axioms and concepts. IMGT® reference directories are used for the analysis of the NGS high-throughput expressed IG and TR repertoires (natural, synthetic and/or bioengineered) and for bridging sequences, two-dimensional (2D) and three-dimensional (3D) structures. This manuscript focuses on the IMGT®Homo sapiens IG and TR loci, gene order, copy number variation (CNV) and haplotypes new concepts, as a paradigm for jawed vertebrates genome assemblies.
摘要：
IMGT®,国际ImMunoGeneTics信息系统®，由Marie-PauleLefranc（蒙彼利埃大学和CNRS）于1989年创建，标志着免疫信息学的出现，在免疫遗传学和生物信息学之间的界面出现的一门新科学，用于研究适应性免疫反应。IMGT®基于从鱼类到人类的免疫球蛋白（IG）和T细胞受体（TR）基因和等位基因的标准化命名法，以及免疫球蛋白超家族的可变（V）和恒定（C）结构域的IMGT独特编号（IgSF）脊椎动物和无脊椎动物，以及主要组织相容性（MH）和MH超家族（MhSF）蛋白的凹槽（G）结构域。IMGT®包括7个数据库，17个工具和超过25,000页的网络资源用于序列，基因和结构，基于IMGT-ONTOLOGY公理和概念生成的IMGT科学图表规则。IMGT®参考目录用于分析NGS高通量表达的IG和TR库(自然，合成和/或生物工程)和桥接序列，二维(2D)和三维(3D)结构。本手稿侧重于IMGT®智人IG和TR基因座，基因顺序，拷贝数变异(CNV)和单倍型新概念，作为颌骨脊椎动物基因组组装的范例。
