TY - JOUR
T1 - Resolving MiSeq-Generated Ambiguities in HLA-DPB1 Typing by Using the Oxford Nanopore Technology
AU - Duke, Jamie L.
AU - Mosbruger, Timothy L.
AU - Ferriola, Deborah
AU - Chitnis, Nilesh
AU - Hu, Taishan
AU - Tairis, Nikolaos
AU - Margolis, David J.
AU - Monos, Dimitri S.
N1 - Publisher Copyright:
© 2019 American Society for Investigative Pathology and the Association for Molecular Pathology
PY - 2019/9
Y1 - 2019/9
N2 - The technical limitations of current next-generation sequencing technologies, combined with an ever-increasing number of human leukocyte antigen (HLA) alleles, form the basis for the additional ambiguities encountered at an increasing rate in clinical practice. HLA-DPB1 characterization, particularly, generates a significant percentage of ambiguities (25.5%), posing a challenge for accurate and unambiguous HLA-DPB1 genotyping. Phasing of exonic heterozygous positions between exon 2 and all other downstream exons has been the major cause of ambiguities. In this study, the Oxford Nanopore MinION, a third-generation sequencing technology, was used to resolve the phasing. The accurate MiSeq sequencing data, combined with the long reads obtained from the MinION platform, allow for the resolution of the tested ambiguities.
AB - The technical limitations of current next-generation sequencing technologies, combined with an ever-increasing number of human leukocyte antigen (HLA) alleles, form the basis for the additional ambiguities encountered at an increasing rate in clinical practice. HLA-DPB1 characterization, particularly, generates a significant percentage of ambiguities (25.5%), posing a challenge for accurate and unambiguous HLA-DPB1 genotyping. Phasing of exonic heterozygous positions between exon 2 and all other downstream exons has been the major cause of ambiguities. In this study, the Oxford Nanopore MinION, a third-generation sequencing technology, was used to resolve the phasing. The accurate MiSeq sequencing data, combined with the long reads obtained from the MinION platform, allow for the resolution of the tested ambiguities.
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U2 - 10.1016/j.jmoldx.2019.04.009
DO - 10.1016/j.jmoldx.2019.04.009
M3 - Article
C2 - 31173929
AN - SCOPUS:85070810090
SN - 1525-1578
VL - 21
SP - 852
EP - 861
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 5
ER -