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The hidden heritability of immune-related diseases

A greater understanding of human genetics and disease-related research has fueled the search for a connection between heritability and immune-related diseases. The well-documented association of the human major histocompatibility complex (MHC) and killer immune receptor (KIR) with many immune-related diseases has spurred large investments in a variety of advanced sequencing tools and large cohort studies. Despite these efforts, the fine mapping of causal variants within MHC or KIR remains difficult, limiting our understanding of the mechanisms leading to immune disease1.

The impact of complex immune genes on disease-association studies

The inherent complexity of the immune sub-genomic regions may be why linking associated variants to immune diseases has been challenging. The MHC and KIR gene complex contain large copy number variants (CNVs), a high density of genes, hyper-polymorphic gene alleles, and conserved extended haplotypes (CEH) with enormous linkage disequilibrium (LDs). This level of complexity makes it difficult to de novo assemble or align these haplotypes correctly using next-generation sequencing methods2.

Discover how SMRT Sequencing impacts your immuno-genomic research

Single Molecule, Real-Time (SMRT) Sequencing delivers the long reads, uniform coverage, and high accuracy needed to comprehensively and confidently phase-resolve the complete range of sequence variants observed in complex immune regions.

Featured research: Explore genetic variation in complex immune loci such as KIR genes

Prall-2017-Improved-Discovery of a full-length KIR transcript in Mauritian cynomolgus macaque
Scientists used long-read sequencing to generate unambiguous KIR genotypes in a well-characterized population of Cynomolgus macaques. They identified nine novel allele variants which aided the refinement of Mafa-KIR haplotype organization model (shown above)3.

Explore this research further.

For more information about how SMRT Sequencing can advance your immunology research, contact us.

 

References

  1. Trowsdale J. and Knight JC., (2013) Major histocompatibility complex genomics and human disease. Annual Review Genomics Human Genetics. 14, 301-323.
  2. Brandt, D. Y. C., et al., (2015) Mapping bias overestimates reference allele frequencies at the HLA genes in the 1000 Genomes Project phase I data. 5(5), 931-941.
  3. Prall, T. M., et al., (2017) Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics doi:10.1007/s00251-017-0977-7.

Selected Resources