Abstract
Experiments presented in this thesis reveal the possibility of producing phase-defined HLA genotypes through the use of multiplexed amplification and nanopore sequencing. We present a breakthrough that provides prospective HLA allele-level typing during solid organ allocation. We encountered challenges throughout the development of HLA nanopore sequencing, specifically in the generation of large datasets. A novel data analysis pipeline was built to utilise cloud resources. When analysing HLA genes on a larger scale, important SNPs and extended haplotypes became more apparent. Finally, future research based on the findings in this thesis should focus on HLA haplotypic associations or MHC block matching.
| Original language | English |
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| Qualification | Doctor of Philosophy |
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| Award date | 9 Nov 2023 |
| DOIs | |
| Publication status | Unpublished - 2022 |
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Dive into the research topics of 'The investigation of single molecule sequencing to characterise HLA genes for clinical use in allogeneic transplantation'. Together they form a unique fingerprint.Research output
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Report from the extended HLA-DPA1 ~ promoter ~ HLA-DPB1 haplotype of the 18th international HLA and immunogenetics workshop
Truong, L., Matern, B. M., El-Lagta, N., Mobegi, F. M., Askar, M., Ogret, Y., Oguz, F. S., Kwok, J., D'Orsogna, L., Martinez, P., Petersdorf, E., Tilanus, M. G. J. & De Santis, D., Dec 2023, In: Hla. 102, 6, p. 690-706 17 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Citations (Scopus) -
Nanopore sequencing data analysis using Microsoft Azure cloud computing service
Truong, L., Ayora, F., D'Orsogna, L., Martinez, P. & De Santis, D., Dec 2022, In: PLoS One. 17, 12, 15 p., e0278609.Research output: Contribution to journal › Article › peer-review
Open Access9 Link opens in a new tab Citations (Scopus) -
A novel multiplexed 11 locus HLA full gene amplification assay using next generation sequencing
Truong, L., Matern, B., D'Orsogna, L., Martinez, P., Tilanus, M. G. J. & De Santis, D., 1 Feb 2020, In: Hla. 95, 2, p. 104-116 13 p.Research output: Contribution to journal › Article › peer-review
12 Link opens in a new tab Citations (Scopus)
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