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- 01GME1HPSCPWSC1F9WSBX1EFV6 classification D1.
- 01GME1HPSCPWSC1F9WSBX1EFV6 promoter F4D02620-F0ED-11E1-A9DE-61C894A0A6B4.
- 01GME1HPSCPWSC1F9WSBX1EFV6 promoter F5BC58D8-F0ED-11E1-A9DE-61C894A0A6B4.
- 01GME1HPSCPWSC1F9WSBX1EFV6 promoter F5C0698C-F0ED-11E1-A9DE-61C894A0A6B4.
- 01GME1HPSCPWSC1F9WSBX1EFV6 date "2022".
- 01GME1HPSCPWSC1F9WSBX1EFV6 language "eng".
- 01GME1HPSCPWSC1F9WSBX1EFV6 type dissertation.
- 01GME1HPSCPWSC1F9WSBX1EFV6 hasPart 01GME1KP3M99J2F6H8S1Z8BEG5.pdf.
- 01GME1HPSCPWSC1F9WSBX1EFV6 subject "Chemistry".
- 01GME1HPSCPWSC1F9WSBX1EFV6 subject "Medicine and Health Sciences".
- 01GME1HPSCPWSC1F9WSBX1EFV6 abstract "Pharmacogenomics (PGx) studies the relationship between the patient genetic background and drug therapy. This dissertation aims to define which PGx tests are present on the market and which improvements are needed to these PGx tests to capture all essential variants and make them widely applicable in clinical practice. Therefore, in the first part, different PGx-specific tests, direct-to-customers assays, and exome sequencing were compared with the genetic variants in gene-drug interactions described in public databases. The studied tests could assay most of these genetic variants, mainly single nucleotide variants (SNVs). However, more complex and important haplotypes were missing. Therefore, in the second part of this dissertation, two new targeted sequencing technologies were tested to see to what extent they could call and phase the different variants into haplotypes for important pharmacogenes. First, the TLA technology was performed on four complex pharmacogenes and sequenced on the Illumina and ONT platforms. Both sequencing methods had a low on-target percentage, and not all positions in the genes were entirely covered. Nevertheless, CYP2D6, sequenced with the ONT platform, resulted in the correct genotype. However, less than half of the variants were phased correctly for the other studied genes. Second, we optimized the nanopore Cas9-targeted sequencing method to enrich the CYP2D6-CYP2D7 region. Although the low on-target percentage and low sequencing throughput, this method, combined with a newly developed analysis pipeline, resulted in the discovery of an inserted CYP2D6-CYP2D7 hybrid that goes undetected by other assays.".
- 01GME1HPSCPWSC1F9WSBX1EFV6 author 33C35672-F0EE-11E1-A9DE-61C894A0A6B4.
- 01GME1HPSCPWSC1F9WSBX1EFV6 dateCreated "2022-12-16T18:01:09Z".
- 01GME1HPSCPWSC1F9WSBX1EFV6 dateModified "2024-10-29T08:50:17Z".
- 01GME1HPSCPWSC1F9WSBX1EFV6 name "Exploring and optimizing variant detection and phasing methods in pharmacogenomics".
- 01GME1HPSCPWSC1F9WSBX1EFV6 pagination urn:uuid:ff483433-e834-4a5c-a3d5-518609b6d836.
- 01GME1HPSCPWSC1F9WSBX1EFV6 publisher urn:uuid:3a4dfd53-ff5b-4661-9831-a8b8a8301880.
- 01GME1HPSCPWSC1F9WSBX1EFV6 sameAs LU-01GME1HPSCPWSC1F9WSBX1EFV6.
- 01GME1HPSCPWSC1F9WSBX1EFV6 sourceOrganization urn:uuid:4112f796-0d5d-40e6-ade8-c6eb0042cf24.
- 01GME1HPSCPWSC1F9WSBX1EFV6 sourceOrganization urn:uuid:9ce422a0-fbb8-4aa2-9560-48f93f9d15c5.
- 01GME1HPSCPWSC1F9WSBX1EFV6 type D1.