Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide and gene copy number variants. This unique locus architecture has hindered the comprehensive characterization of polymorphisms in these regions, particularly using standard, short-read and array-based high-throughput genomic methods. As a result, our appreciation of the extent of haplotype variation across human populations, and the role of IG polymorphism in the immune response remains limited. This presentation will discuss efforts currently underway to establish improved genomic resources and tools that will facilitate large-scale characterization of IG genetic diversity as a means to leverage this information to improve our understanding of the functional antibody response in disease and relevant clinical phenotypes.

Learning Objectives: 

1. Appreciate the complexity of the human immunoglobulin gene regions and the need for improved genomic resources and tools.
2. Understand the importance of immunoglobulin genetic variation in the antibody response and antibody-related phenotypes.