Four-field HLA typing and MHC variant detection from long-read hybrid capture

Presented by
Omar E. Cornejo PhD
Associate Professor, Department of Ecology and Evolutionary Biology, University of California, Santa Cruz
James Flynn
Senior Staff Product Manager, Twist Bioscience

Covered in this Webinar
Comprehensive MHC coverage: Learn how a hybrid capture panel paired with long-read sequencing reconstructs full-length, phased sequences across all classical and non-classical HLA Class I and II genes, plus the 69 protein-coding MHC Class III genes.
Accurate typing with HLA-Resolve: See how the companion tool, HLA-Resolve, types genes directly from full-length reconstructions. It reached 99.5% concordance with reference HLA typings and matched HPRC assemblies exactly in 95% of cases.
Beyond classical alleles: Find out how sequencing the whole gene, instead of genotyping against known alleles, lets researchers study how structural and regulatory variation shapes HLA's role in disease.

The major histocompatibility complex (MHC) is one of the most polymorphic and clinically important regions of the genome. It is also one of the hardest to genotype. Most HLA typing still relies on PCR-based methods that call classical alleles without characterizing the sequence around them. In this webinar, Dr. Cornejo and colleagues present a different approach. They pair a hybrid capture panel with long-read sequencing (PacBio and ONT) to reconstruct full, phased gene sequences across the MHC. A single assay captures structural, protein-coding and regulatory variation, rather than returning only an allele name.

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