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BioinformaticsJournal of Molecular Diagnostics
Peer-reviewed journal article

Accurate typing of class I human leukocyte antigen by Oxford nanopore sequencing

Chang LiuiD, Fangzhou XiaoiD, Jessica Hoisington‐LopeziD, Kathrin Lang, Philipp Quenzel, BRIAN F. DUFFY, Robi David MitraiD

Abstract

Oxford Nanopore Technologies MinION has expanded the current DNA sequencing toolkit by delivering long read lengths and extreme portability. The MinION has the potential to enable expedited point-of-care human leukocyte antigen (HLA) typing, an assay routinely used to assess the immunological compatibility between organ donors and recipients, but the platforms high error rate makes it challenging to type alleles with clinical-grade accuracy. Here, we developed and validated Athlon, an algorithm that iteratively scores nanopore reads mapped to a hierarchical database of HLA alleles to arrive at a consensus diploid genotype; Athlon achieved a 100% accuracy in class I HLA typing at high resolution.

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