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The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

OptiType: precision HLA typing from next-generation sequencing data

Open access
Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver·2014·Bioinformatics

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. Result: We present OptiType, a novel HLA genotyping algorithm based on integer linear programming, capable of producing accurate predictions from NGS data not specifically enriched for the HLA cluster. We also present a comprehensive benchmark dataset consisting of RNA, exome and whole-genome sequencing data. OptiType significantly outperformed previously published in silico approaches with an overall accuracy of 97% enabling its use in a broad range of applications. Contact: szolek@informatik.uni-tuebingen.de Supplementary information: Supplementary data are available at Bioinformatics online.

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Show all 33 references

Research works printed but not linked: 6

  1. Blasczyk, 1997, The nature of polymorphism of the HLA class I non-coding regions and their contribution to the diversification of HLA, Hereditas, 127, 7, 10.1111/j.1601-5223.1997.00007.x · doi:10.1111/j.1601-5223.1997.00007.x
  2. Bradley, 1991, The role of HLA matching in transplantation, Immunol. Lett., 29, 55, 10.1016/0165-2478(91)90199-K · doi:10.1016/0165-2478(91)90199-k
  3. Danzer, 2013, Rapid, scalable and highly automated HLA genotyping using next-generation sequencing: a transition from research to diagnostics, BMC Genomics, 14, 221, 10.1186/1471-2164-14-221 · doi:10.1186/1471-2164-14-221
  4. Gabriel, 2009, Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification, Hum. Immunol., 70, 960, 10.1016/j.humimm.2009.08.009 · doi:10.1016/j.humimm.2009.08.009
  5. Kyzirakos, 2013, iVacALL: utilizing next-generation sequencing for the establishment of an individual peptide vaccination approach for paediatric acute lymphoblastic leukaemia, Bone Marrow Transplant., 48, S401
  6. Lank, 2010, A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping, Hum. Immunol., 71, 1011, 10.1016/j.humimm.2010.07.012 · doi:10.1016/j.humimm.2010.07.012

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Metadata

Authors
Szolek, A., Schubert, B., Mohr, C., Sturm, M., Feldhahn, M., & Kohlbacher, O.
Venue
Bioinformatics
Published
2014-08-20
Volume
30
Issue
23
Pages
3310-3316
ISSN
  • 1367-4803 (ISSN-L)
  • 1367-4811
OpenAlex
W2150056019
Cited by
769
References
33
FWCI
8.03
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: OptiType: precision HLA typing from next-generation sequencing data. https://app.cochat.ai/papers/10.1093/bioinformatics/btu548
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Szolek, A., Schubert, B., Mohr, C., Sturm, M., Feldhahn, M., & Kohlbacher, O. (2014). OptiType: precision HLA typing from next-generation sequencing data. Bioinformatics. https://doi.org/10.1093/bioinformatics/btu548

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