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dc.contributor.authorMurphy, NM
dc.contributor.authorBurton, M
dc.contributor.authorPowell, DR
dc.contributor.authorRossello, FJ
dc.contributor.authorCooper, D
dc.contributor.authorChopra, A
dc.contributor.authorHsieh, MJ
dc.contributor.authorSayer, DC
dc.contributor.authorGordon, L
dc.contributor.authorPertile, MD
dc.contributor.authorTait, BD
dc.contributor.authorIrving, HR
dc.contributor.authorPouton, CW
dc.date.accessioned2020-12-21T01:09:39Z
dc.date.available2020-12-21T01:09:39Z
dc.date.issued2016-07-27
dc.identifierpii: srep30381
dc.identifier.citationMurphy, N. M., Burton, M., Powell, D. R., Rossello, F. J., Cooper, D., Chopra, A., Hsieh, M. J., Sayer, D. C., Gordon, L., Pertile, M. D., Tait, B. D., Irving, H. R. & Pouton, C. W. (2016). Haplotyping the human leukocyte antigen system from single chromosomes. SCIENTIFIC REPORTS, 6 (1), https://doi.org/10.1038/srep30381.
dc.identifier.issn2045-2322
dc.identifier.urihttp://hdl.handle.net/11343/256393
dc.description.abstractWe describe a method for determining the parental HLA haplotypes of a single individual without recourse to conventional segregation genetics. Blood samples were cultured to identify and sort chromosome 6 by bivariate flow cytometry. Single chromosome 6 amplification products were confirmed with a single nucleotide polymorphism (SNP) array and verified by deep sequencing to enable assignment of both alleles at the HLA loci, defining the two haplotypes. This study exemplifies a rapid and efficient method of haplotyping that can be applied to any chromosome pair, or indeed all chromosome pairs, using a single sorting operation. The method represents a cost-effective approach to complete phasing of SNPs, which will facilitate a deeper understanding of the links between SNPs, gene regulation and protein function.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleHaplotyping the human leukocyte antigen system from single chromosomes
dc.typeJournal Article
dc.identifier.doi10.1038/srep30381
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.departmentMedicine (RMH)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleScientific Reports
melbourne.source.volume6
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1085426
melbourne.contributor.authorTait, Brian
melbourne.contributor.authorGordon, Lavinia
melbourne.contributor.authorRossello, Fernando
dc.identifier.eissn2045-2322
melbourne.accessrightsOpen Access


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