Budapest, Hungary, 6th November 2013 – Today Omixon announces that its scientific publication titled „HLA Typing From 1000 Genomes Whole Genome and Whole Exome Illumina Data” has been published in the Public Library of Science ONE (PLOS ONE) online journal.
The Human Leukocyte Antigen (HLA) genes are a key part of the immune system, and play a significant role in infection, auto-immunity, cancer and transplantation, and are associated with many adverse drug responses. The HLA region is the most polymorphic region of the human genome and it is difficult to analyse with any technique, including NGS. HLA is already used as a companion diagnostic for two subscription drugs and is currently being investigated as a biomarker in 69 clinical trials. Despite its importance, it is often omitted from whole genome and exome studies due to difficulties with the analysis.
By HLA typing the HapMap subset of the public 1000 Genomes paired Illumina data, Omixon demonstrates that HLA-A, B and C typing is possible from exome sequencing samples with very high accuracy. An important conclusion of the study is that ambiguities and errors are explained by the lack of coverage at critical exons. Given the current, improved standard of whole genome and exome sequencing, we can expect significantly higher accuracy today.
”An increasing number of clinical trials involve exome and whole genome based biomarker studies of drug safety and efficacy. Due to the nature of HLA polymorphisms, the analysis of this region is highly challenging and often left out. Our published study proves that Omixon’s direct genotyping approach bridges this gap and enables HLA associations to be studied directly from exome and genome data.” says Attila Berces, Founder and Chairman of Omixon.
According to Tim Hague, Omixon’s CEO ”The HLA region is associated with more diseases than any other region of the human genome. The ability to reliably detect HLA types from exome and genome data will add an extra layer of value to genome- and exome-wide association studies for many fields of disease and drug research.”
Read the whole article here.
Omixon specialises in the analysis of targeted Next Generation Sequencing (NGS) data. Using our Target application suite we offer high resolution HLA typing. We also help scientists and clinicians to investigate challenging genomic regions such as breast cancer susceptibility genes (BRCA1 and BRCA2), cystic fibrosis gene (CFTR), as well as custom panels.