Published in

Oxford University Press (OUP), Bioinformatics, 23(30), p. 3310-3316

DOI: 10.1093/bioinformatics/btu548

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OptiType: precision HLA typing from next-generation sequencing data

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Motivation: The human leukocyte antigen (HLA) gene cluster plays a crucial role in adaptive immunity and is thus relevant in many biomedical applications. While next-generation sequencing data are often available for a patient, deducing the HLA genotype is difficult because of substantial sequence similarity within the cluster and exceptionally high variability of the loci. Established approaches, therefore, rely on specific HLA enrichment and sequencing techniques, coming at an additional cost and extra turnaround time.