This article has been corrected to list all of the genes targeted by the assay. The previous version noted only one of them.
NEW YORK (GenomeWeb) – Bioinformatics software firm Omixon today announced a licensing deal with the Children's Hospital of Philadelphia to commercialize a new next-generation sequencing-based HLA genotyping assay for use on Illumina's MiSeq instrument.
An Illumina-specific HLA genotyping protocol was developed in the laboratory of Dimitri Monos, director of the immunogenetics laboratory in the department of pathology and laboratory medicine at CHOP. The new assay provides "long-range targeted amplification and library preparation reagents for the whole-gene coverage of HLA-A, B, C, and DQB1, and partial coverage for HLA-DRB1," Omixon said in a statement.
Omixon noted that HLA genes are "the most complex gene family known in the entire human genome" as gene sequences for HLAs are "extremely polymorphic" and typing with technologies such as sequence-specific oligonucleotides and primers or Sanger sequencing cannot capture HLA gene sequences. NGS has the potential to characterize HLA at a fully resolved, nucleotide level, but exploiting that potential in a manner that is easy to work with and which leverages the benefits of the technology has been a challenge, the company added.
The protocol developed by Monos and his colleagues provides Illumina data that allows Omixon Target HLA Typing software "to fully resolve phase for both alleles at each locus and provide completely characterized novel allele sequences," Omixon said.
"This new approach addresses a 60-year-old problem," Monos said. "Since the discovery of HLAs in the early 1950s, it has been a challenge to accurately and thoroughly characterize HLA gene sequences. We have now used next-generation sequencing tools to significantly advance HLA typing."
Omixon Founder and Chairman Attila Berces added that the collaboration with CHOP "forms a key component for Omixon's long-term vision for HLA and immunogenetics. HLA will play an increasing role in disease and safety associations and therapeutic selection in personalized medicine. With growing application of HLA, the size of the HLA typing market will also grow substantially."
Financial and other terms of the deal were not disclosed.