Related Experiment Video
Updated: Jan 17, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
IMGT® analysis of the human IGH locus: unveiling novel polymorphisms and copy number variations in 15 genome
Ariadni Papadaki1, Maria Georga1, Joumana Jabado-Michaloud1
1IMGT®, The International ImMunoGeneTics Information System®, Institute of Human Genetics (IGH), National Center for Scientific Research (CNRS), University of Montpellier (UM), 34000 Montpellier, France.
Abstract:
Unraveling the genetic complexity of the human immunoglobulin heavy (IGH) chain locus provides valuable insights into the mechanisms underlying the efficacy and specificity of the adaptive immune response. Despite its crucial role, the IGH locus remains insufficiently characterized, with its allelic diversity and polymorphisms inadequately investigated. In this study, we present an analysis of the human IGH locus, incorporating 15 human genome assemblies from diverse ancestries, including African, European, Asian, Saudi, and mixed backgrounds. Through our examination of both maternal and paternal assemblies, we uncover novel IGH alleles, copy number variations (CNV), and polymorphisms, particularly within the variable (IGHV) region. Our findings reveal extensive and previously uncharacterized genetic variability in the constant (IGHC) region and distinct IMGT CNV forms across individuals. This research contributes to a significant enrichment of the IMGT® IGH reference directory, databases, tools and web resources, and lays the groundwork for an IMGT® haplotype database which can be progressively enriched as additional datasets become available. Such a resource promises to propel personalized immunogenomics forward, with exciting applications in cancer immunotherapy, COVID-19, and other immune-related diseases.
More Related Videos
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Non-LTR Retrotransposons

